CAT GENES AND GENE SYMBOLS

CAT GENES AND GENE SYMBOLS

This page simply lists the symbols for commonly referenced genes for colours, patterns and anomalies. Where there are several alleles, these are listed in order of dominance (some are co-dominant) though the order of dominance for posited genes is unknown. Although most of the traits/genes listed here are shown as dominant/recessive, some traits once thought to be controlled by simple Mendelian inheritance principles are actually influenced by one or more modifier genes.

Some genes are hypothetical or under debate i.e. an effect has been observed, but the existence of a single gene governing that effect has not been proven.

BASIC COLOUR GENES

There are two types of colour pigment - eumelanin (black/brown pigment) and phaeomelanin (yellow/red pigment). There are several mutant forms of the black/brown pigment. The coat colour depends on which pigments are present. A number of other genes modify the amount of pigment in the hair shaft and whether it is laid down in alternating light and dark bands along the shaft or as a single, solid band stretching from follicle to hair tip. At the foot of this page there is a more detailed description of how melanin works to give a wide array of colours.

	Dominant	Recessive(s)	Notes
Colour/Albino	C - full colour	c - pink-eyed albino c^a - blue-eyed albino c^b- Burmese c^m- Mocha c^s- Siamese	c^sc^b = Tonkinese c^sc^m = Siamocha c^bc^m = Burmocha
Agouti	A - agouti	a - non-agouti	Wild-type is agouti
Agouti - Charcoal Pattern	a + A^Pb = Charcoal Pattern	A2 = Agouti variant found in Bengal and Savannah cats. The phenotypic effect of A2 has not been established. A^Pb = alternative Agouti variant found in Asian Leopard Cats. A^Ls = alternative Agouti variant found in Serval and Savannah cats. The phenotypic effect of A^Ls has not been established.
Black/brown	B - black/brown	b - chocolate b^l - cinnamon	Order of dominance is B > b > b¹
Dilution	D - dense	d - dilute
Orange	O	o - wild-type	Sex-linked
White Masking / Spotting	W - White masking (masks all other colours) Ws - piebald/white spotting (recessive to white masking)	w - non-white W^sal - salmiak ("Finnish mutation") (recessive) wg - white gloving	Epistatic

Colour Modifier Genes

These are genes that modify the action of other genes giving more subtle variations on the basic colour. Although it could be argued that dense/dilute modifies the colour, it is listed as a basic colour.

	Dominant	Recessive	Notes
Amber (Extension Gene/Black Modifier)	E - black pigment produced	e -red pigment produced	ee genotype produces reddish pigment instead of black or blue
Dilute Modifier	Dm - modifies dilute colours	dm - no effect on colour	Dominant, but only affects cats that are homozygous for dilute "d"
Pink Eye Dilution	??	??	Recessive? Turns Black into a light brown colour, eyes are golden with red pupil.
Colour Inhibitor	I - gives silver undercoat	i (i+) - no silver undercoat	Dominant gene giving silver undercoat, works in conjunction with Wideband (Wb) in tipped, shaded and smoke phenotypes
Sunshine (Siberian Golden) See Wideband wb^SIB		sg - old terminology for WB^SIB	Recessive gene in Siberian (possibly also Kurilian) breed currently only seen in agouti (tabby patterned) Siberian cats where it produces reddish areas in the black, blue etc coat. Because Sunshine is on a different locus to the Inhibitor (silver) gene (or polygenes), it is possible for both genes to occur in the same cat resulting in a "bi-metal" appearance where both silver and golden areas are present.
Wideband		wb - wideband effect wb^BSH - Flaxen Gold (British) wb^SIB - Sunshine (Siberian) wb^BEN - Sorrel (Bengal) WB is also called VWB - Variable Wideband, VWB+ being the "wild type")	Determines width of silver/gold undercoat band between hair follicle and first band of pigment. Inherited independently of Silver homozygous wb^BSH is Flaxen Gold in British homozygous wb^SIB is Sunshine in Siberians homozygous wb^BEN is Sorrel in Bengals

PATTERN GENES

Colourpoint is not included here as it is a form of albinism. These genes affect the distribution of colour on the body. Some of the posited genes have been given symbols by breeders, but are not widely accepted. You will find that outdated texts give Ta as ticked tabby, Tm as mackerel tabby and Tc as classic tabby and describe them as alleles of a single "tabby" gene. This was later proved incorrect. Tm and Tc are no longer used; mackerel is now Mc and classic tabby is mc. Ticked tabby is a different gene and remains Ta although some early research designated it U for "unstriped tabby".

	Dominant	Recessive	Notes
Altai Blue Eyes	??		Dominant, causes blue eyes.
Bengal Glitter		gl
Melanin Inhibitor	I - silver	i (i+)	Silver (ii [or --] + Wb = gold)
Ojos Azules	??		Dominant, causes blue eyes and white splashed extremeties
Spotted Tabby	Sp		Egyptian Mau type spots
Tabby Pattern	Mc- mackerel Ms - spotted	mc - classic
Tabby Pattern Modifier - size	Thl - large pattern classic tabby	ths - small pattern classic tabby (Sokoke type)	Posited for Australian Mist, interacts with mackerel or classic tabby to determine blotch size/density
Tabby Pattern Modifier - spots	Pmf - modified tabby	pmu - unmodified tabby	Posited for Australian Mist, interacts with mackerel or classic tabby to give small or large spots respectively
Ticked Tabby (Unstriped Tabby)	T^a- Abyssinian ticked U (alternative notation for Unstriped)	t^a- non Aby ticked u (alternative notation for "does not mask striped pattern")	Originally thought to be an allele of Tabby Pattern, but now known to be on a different locus
White Masking / Spotting	W - White masking Ws - piebald/white spotting (recessive to white masking)	w non-white W^sal - salmiak ("Finnish mutation") wg - white gloving	Sb and Sm are posited modifiers. Mitted breeds other than Birmans might not have the wg "White Gloving" gene, but a different mutation. Previously N was used for non-gloved

FUR TYPE GENES

These are fur type anomalies that are (or have been) selectively bred; some of the newer ones have not been allocated symbols. At the time of writing there are also several "new" rexes whose genetic make-up has not yet been determined.

	Gene Symbol	Notes
Cornish Rex	r	recessive
Devon Rex	re	recessive Sphynx & Devon Rex are different mutations of the same allele (same locus. Devon Rex is recessive to Sphynx.)
Dutch Rex	Rd	dominant
German Rex	gr	recessive
Long hair	l	recessive
Hairless (French)	h	recessive
Haired	Hr	Dominant to Sphynx Hairless, recessive to Russian Hairless
Hairless (Hawaiian)	hr	DNA analysis found this to be same mutation as Sphynx with other effects being due to interaction/recombination of genes on other loci
Hairless (Mexican)	??	Never identified, research in newspapers has found that this term was a generic name for early hairless cats regardless of parentage or geographical origin.
Hairless (Redcar hairless)	hd	Recessive, lethal (British hairless mutation)
Hairless Russian (Peterbald & Donskoy)	Hrbd	dominant (incomplete penetrance) Hrbd (bald) - Russian Hairless Gene has 2 modifiers: hi mInimiser modifier for Improving hairlessness ha mAximiser modifier for constraining/weakening hairlessness Combinations: HrHr + hiha = normal haired (assume one of each modifier) HrbdHr + hihi = brush coat HrbdHr + hiha = brush coat with some bald areas HrbdHr + haha = brush coat that turns bald HrbdHrbd + hihi = velour coat HrbdHrbd + hiha = flocked coat HrbdHrbd + haha = rubber bald born bald and remains bald Hrbd > Hr >hr Russian Hairless > Haired > Sphynx hairless (recessive)
Hairless (Sphynx)	hr	Recessive; Canadian Sphynx breed. Sphynx & Devon Rex are different mutations of the same allele (same locus). Sphynx is dominant to Devon Rex.
LaPerm	Lp	dominant
Oregon Rex	ro	recessive
Recessive Shorthair	??	recessive. Shorthair is normally dominant over longhair, but some Persian lines (should breed true for recessive longhair gene) have produced shorthair offspring.
Satin (Tennessee Rex)	??	either recessive or "dominant with additive effect". Homozygotes have "radical satin" fur (and are also curly haired) while heterozygotes (straight haired "carriers" of Tennessee Rex curled fur) have shinier-than usual fur, but not a high degree of satin. It isn't established whether the satin and rex traits are caused by one gene or by two genes located close to each other.
Selkirk Rex	Se	dominant (the symbol Rs has also been used)
Sparse (Lykoi)	hrTN hrVA hrTX hrFR hrNC hrCa	Tennessee & Missouri lineages Virginia lineage Texas, California, Georgia, South Carolina, Utah, Vermont, Florida 2 & France 2 lineages France 1 lineage North Carolina lineage Canada & Florida 1 lineage
Wirehair	Wh	Dominant (poss incomplete)
York Choc Undercoat	Yuc yuc	Dominant, lacks undercoat (posited) Recessive, full undercoat (posited)

BODY TYPE GENES

These are conformation anomalies that are selectively bred.

	Gene Symbol	Notes
Bobtail (Japanese, Karelian)	Jb	Recessive The gene itself is autosomal dominant, however, homozygous recessive cats have the desired bobtailed trait therefore breeders treat the gene as though it were recessive.
Bobtail (Kurelian)	??	Incomplete Dominant
Curled Ear	Cu	dominant
Folded Ear	Fd	Dominant, incomplete penetrance
Manx	M	dominant
Munchkin	Mk	dominant
Polydactyl	Pd	Incomplete penetrance (this is "classic polydactyly"; there may also be other mutations producing polydactyly
Ringtail	??	A recessive gene controls the degree of curl. An incomplete dominant gene controls how the tail is carried.

ABNORMALITIES

This list excludes those abnormalities that have been developed as breed traits. The list includes both physical and physiological anomalies.

Abnormality	Gene Symbol	Notes
Brachyury (short tail)	br	recessive
Chediak-Higashi syndrome	ch	Recessive
Cutaneous asthenia ("winged cat syndrome")	Cut	dominant
Episodic weakness	ew	Recessive (provisional symbol)
Flat Chested	fck	Recessive (provisional symbol)
Four Ears (duplicate pinnae)	dp	Recessive
Gangliosidosis GM1	ga-1	recessive
Gangliosidosis GM2	ga-2	recessive
Haemophilia A	Hma	Sex-linked
Haemophilia B	Hmb	Sex-linked
Hageman Factor Deficiency	Hag	Dominant (incomplete)
Hydrocephaly	hy	recessive
Hyperoxaluria	ho	recessive
Hyperchylomicronemia	hce	recessive
Mannosidosis	man	recessive
Meningoencephalocele	mc	recessive
Mucopolysaccharidosis-1	mps-1	recessive
Mucopolysaccharidosis-6	mps-6	recessive
Mucopolysaccharidosis-7	mps-7	recessive
Neuroaxonal dystrophy	no	recessive
Pelger-Huet Anomaly	Ph	Dominant
Polycystic Kidney Disease	??
Porphyria	Po	Dominant
Progressive Retinal Atrophy	rdg	Recessive (Sweden)
Progressive Retinal Atrophy (Rod-Cone Dysplasia)	Rdy	Dominant (UK)
Retinal degeneration	rt	recessive
Short Rounded Ears (with neurological syndrome)	??	recessive
Sparse fur	sp	recessive
Spasticity	spt	Recessive
Spheroid lysosomal disease	si	recessive
Sphingomyelinosis	spi	Recessive
Split Foot (syndactyly)	Sh	Dominant
Testicular feminisation	tfm	Recessive
Tremor	tr	Recessive

HOW MELANIN PRODUCES MANY COLOURS

Colour is caused by the melanin pigment. There are two distinct types of melanin in the cat: eumelanin (black-based) and phaeomelanin (red/yellow-based). Eumelanin is, in the absence of colour modifer genes, black or dark brown (seal). Phaeomelanin is, in the absence of colour modifer genes, a yellowish/orangey colour known to cat fanciers as "red". Melanin is deposited on the hair shaft as the hair grows, but is not deposited at a constant rate. This results in the darker tips frequently seen on hairs. The Agouti protein affects the deposition of melanin in the growing hair and results in the banding effect (several bands of dark and light along the hair shaft). It causes alternating, distinct bands of eumelanin (black/brown) and phaeomelanin (red/yellow).

The mutant "Non-Agouti" form of the Agouti protein inhibits the banding effect and results in solid coloured hairs or hairs. The Tabby pattern genes inhibits the action of the Agouti gene in certain areas of the coat resulting in some agouti areas (ticked background colour) and some non-agouti areas (pattern). Sex-linked Red replaces the eumelanin in the growing hairs with phaeomelanin - the hairs are still ticked, but the bands of colour are light and dark red. Unlike eumelanin, phaeomelanin pigment is not greatly inhibited by the Non-Agouti protein hence red cats always show a tabby pattern.

Tortoiseshell cats have a patchwork effect; some areas of the coat have eumelanin while other areas have phaeomelanin. The eumelanistic areas are affected by tabby, non-agouti etc, but the phaeomelanin areas are not. As a result, the tabby pattern still shows up on the red areas regardless of whether the cat is a tortie or a tabby-tortie. A series of "rufous polygenes" affect the richness of the red colour - ranging from yellow-orange through to rich orange-red.

The B (black/brown) gene has a lightening effect on eumelanin. Depending on which of the B genes a cat has, the coat can be black/brown, chocolate or cinnamon. The D (dense/dilute) gene affects the density of pigment in the hair and affects both eumelanin and phaeomelanin. The effect is a washed out version of the original colour e.g. black becomes blue, red becomes cream. The Dm (dilute modifier) gene only affects the colour if the cats are already dilute (homozygous for the dilution gene). It "browns" or "caramelises" the diluted colour e.g. blue becomes caramel, cream becomes apricot.

Black/Brown Gene	Dilution	Dilute Modifier	Eumelanistic Colour
B-	D-	any	Brown/Black (dilute modifier does not affect non-dilute colours)
B-	dd	dmdm	Blue
B-	dd	Dm-	Caramel (blue based caramel)
bb or bb^l	D-	any	Chocolate
bb or bb^l	dd	dmdm	Lilac
bb or bb^l	dd	Dm-	Taupe (lilac based caramel)
b^lb^l	D-	any	Cinnamon
b^lb^l	dd	dmdm	Fawn
b^lb^l	dd	Dm-	Fawn based Caramel

Red Gene	Dilution	Dilute Modifier	Phaeomelanistic Colour
O	D-	any	Red
O	dd	dmdm	Cream
O	dd	Dm-	Apricot

The C (full colour) gene comes in various flavours and causes different types of albino. Not all albinos are pure white! The C gene affects the intensity of melanin production. The normal (dominant form) is "full colour". The mutant forms affect the colour intensity and are temperature sensitive - the higher the temperature, the more effective they are. C^b is the Burmese factor and is only slightly temperature sensitive; it causes a slight lightening of black (eumelanin) to brown (sable) and of orange (phaeomelanin) to a yellow colour. C^s is the Siamese factor and is much more temperature sensitive; it has a much greater lightening effect than the Burmese factor causing greater contrast between the body colour and the points. Cats that have one copy of the Burmese factor and one copy of the Siamese factor show an intermediate effect known as Tonkinese. The most recessive form is c which is the rare pink-eyed albino totally lacking in pigment. C^a is the blue-eyed albino where there is a very small amount of pigment.

SCIENTIFIC SYMBOLS FOR GENES AND PHENOTYPES

+ means the wild type allele (when known); AD = autosomal dominant; AID = Autosomal Incompletely Dominant; AR = autosomal recessive; co-D = co-dominant; sex-linked = carried on X or Y chromosome. (Table below based on data from Online Mendelian Inheritance in Animals, OMIA. Sydney School of Veterinary Science, downloaded 3-May-2022, https://omia.org/ )

Trait (alleles)
OMIA Entry
Inherit-
ance
Mode
Phenotype
Gene
Gene Name
Mutation

Agouti/Non-agouti (A+, a)
000201-9685
AR
Agouti = Banded fur; non-agouti = solid
ASIP
Agouti-signalling protein
c.122_123delCA

Albinism/Colourpoint: oculocutaneous albinism type I (OCA1), TYR-related (C+, Cb, Cs, cm, c)
000202-9685
AR
Burmese, Mocha, Siamese colour pattern, full albino
TYR
Tyrosinase
cs = c.940G>A (Siamese)
cb = c.679G>T (Burmese)
c = c.939delc (complete albinism)
c = c.1204C>T (albinism)
c = c.975delC (albinism)
c.820_936delinsAATCTC (Mocha)

Albinism: Pink-Eyed, oculocutaneous, HPS5-related
002116-9685
AR
Donskoy breed "pink-eye," with associated light-brown skin, yellow irises and red-eye effect
Hermansky-Pudlak syndrome 5
HPS5
HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2
c.2571-1G>A (Donskoy)

Brachycephaly (Burmese)
001551-9685
Co-D
Burmese
ALX1
ALX homeobox 1
c.497_508del

Brown (B+, b, bl)
001249-9685
AR
Brown, light brown color variants
TYRP1
Tyrosinase related
protein
b = -5IVS6 (chocolate)
bl = c.298C>T (cinnamon)

Charcoal
002549-9685
AID
Bengal/Savannah charcoal pattern
ASIP
Agouti signalling protein
c.251A>G
c.302A>G
c.142T>C
c.41G>C

Chediak-Higashi Colour Dilution
000185-9685
AR
Persian, washed out smoky dilution with pale eyes.
LYST
lysosomal trafficking regulator
c.8347-2422_9548+1749dup

Colour Dilution (D+, d)
000206-9685
AR
Black to grey/blue, orange to cream
MLPH
Melanophilin
c.83delT

Cutaneous Asthenia
002165-9685
AD
Ehlers-Danlos syndrome, classic type, 1, hyper-elastic skin, winged cats
COL5A1
collagen, type V, alpha 1
c.3420del

Dominant Blue Eyes, Auditory-pigmentary syndrome, PAX3-related
001688-9685
AD
Blue eye colour, Celestial, Maine Coon, Siberian
PAX3
paired box 3
LTR (long terminal repeat) insertion
NC_018730.3:g.206974029_206974030insN[395]

Dominant Blue Eyes, Auditory-pigmentary syndrome, PAX3-related

AD
Blue eye colour, Maine Coon
PAX3
paired box 3
PAX3: c.937C>T

Dominant Blue Eyes, Auditory-pigmentary syndrome, PAX3-related
001688-9659
AD
Blue eye colour (unpublished in May 2024)
PAX3
paired box 3

Extension Gee (E+, e) – Amber, Russet, Copal
001199-9685
AR
Brown/red color variant
MC1R
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
c.250G>A (Amber, Norwegian Forest)
c.440_442del (Russet, Burmese)
c.640_669del (Copal/Carnelian, Kurilian Bobtail)

Ears: Curled Ears (K, k+)
000244-9685
AD
Backward curled ears
Unknown
Unknown
unknown

Ears: Folded Ears (Fd, fd+)
000319-9685
AID
Forward folded ears
TRPV4
transient receptor potential cation channel, subfamily V, member 4
c.1024G>T

Ears: Four Ears (Historic)
000320-9685
AR
Four ears with lethargy and small eyes (C Little, 1957)
Unknown
Unknown
unknown

Hairless: Hypotrichosis, Sphynx (Hr+, hr)
001583-9685
AR
Hypotrichosis, with whiskers short and curled. Hairlessness (Sphynx type)
KRT71
keratin 71, type II
c.816+1G>A

Hairless: Hypotrichosis, Lykoi, Hypotrichia and Roaning,
002229-9685
AR
Partial hairless and roaning, Lykoi breed
HRhairless
c.1255_1256dup
c.1404+2delinsCAG
c.2112G>A
c.2243C>T
c.2593C>T
c.3389_3390insGACA

Hairless: Hypotrichosis, Birman
001949-9685
AR
Hypotrichosis, with short life expectancy (Birman)
FOXN1
forkhead box N1
c.1030_1033del

Hairless: Hypotrichosis, Don Sphynx
001866-9685
AID
Hairlessness, brush coat (Donskoy & Peterbald)
Unknown
Unknown
unknown

Inhibitor (I, i+)
001584-9685
Silver (I, i+)
001438-9685
AD
Absence of phaeomelanin, silver gene.
Unknown
Unknown
unknown

Longhair (L+, l)
000439-9685
AR
Long fur
FGF5
Fibroblast growth
factor 5
c.356_367insT (Ragdoll)
c.406C>T, (Norwegian Forest)
c.474delT, (Maine Coon, Ragdoll)
c.475A>C (Maine Coon)
c.577G>A (Maine Coon)

Tail: Japanese Bobtail (J, j+)
001987-9685
AD
Short, kinked tail
HES7
hes family bHLH transcription factor 7
c.5A>G

Tail: Manx, Short tail, Brachyury (M, m+)
000975-9685
AD
Absent/short tail
TBOX
T – box
c.1196del
c.1166del
c.995delT
c.[995_1011dup;1011_1014del]

Munchkin, Chondrodysplasia, UGDH-related
002541-9685
AD
Munchkin short limbs.
UGDH
UDP-glucose 6-dehydrogenase
g.174882895_174886198delinsN[108]

Orange (O, o+)
X linked
Eumelanin (black) to phaeomelanin (red)
Unknown
Unknown
unknown

Polydactyly (Pd, pd+)
000810-9685
AD
Extra toes
SHH
Sonic hedgehog
c.479A>G,
c.257G>C,
c.481A>T

Polydactyly (Pd, pd+)
000810-9685
AD
Extra toes
LMBR1
Limb Development Membrane Protein 1

Rex: Cornish/German (R+, r)
001684-9685
AR
Curly hair coat
(Cornish/German Type)
LPAR6
Lysophosphatidic acid
receptor 6
c.250_253delTTTG

Rex: Devon (Re+, re)
001581-9685
AR
Curly hair coat
(Devon Type)
KRT71
keratin 71, type II
c.1108-4_1184del, c.1184_1185insAGTTGGAG, c.1196insT

Rex: LaPerm Coat Type
000245-9685
AD
Curly hair coat
Unknown
Unknown
unknown

Rex: Selkirk (RS, rs+)
001712-9685
AD
Curly hair coat
(Selkirk type)
KRT71
keratin 71, type II
c.445-1G>C

Rex: Ural
002273-9685
? (all cats tested were homozygous)
Curly Coat
(Ural Rex)
LIPH
lipase, member H
c.477_483delinsC

Sunshine/Golden (Siberian)
002159-9685
AR
Sunshine (Siberian)
CORIN
corin, serine peptidase
c.2383C>T (see also "Wideband")

Tabby, Classic/Blotched (TM, tb)
001429-9685
AR
Blotched/classic pattern
TAQPEP
Transmembrane
aminopeptidase Q
S59X - c.176C>A (atypical swirl pattern)
T139N (classic)
D228N - c.682G>A (classic)
W841X - c.2522G>A (classic)

Tabby, Ticked (Ta, t)
001484-9685
AD
No tabby pattern, or residual markings at extremities and forehead
DKK4
dickkopf WNT signaling pathway inhibitor 4
c.53C>T (Abyssinian, Burmese, Maine Coon, Oriental shorthair)
c.188G>A (Abyssinian)

White (W, w+)
000209-9685
AD
Epistatic White. Loss of pigmentation
KIT
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
FERV1 LTR ins

White Gloves/Mitts (Birman) (G+, g)
001580-9685
AR
White feet
KIT
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
c.1035_1036delinsCA

White Spotting (W^s or S, s+)
001737-9685
Co-D
Bicolour (from “tuxedo” through to “van”, sometimes solid white (sometimes with temporary “kitten cap” marking)
KIT
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
7125ins FERV1 element

Salmiak (W^sal)
001737-9685
AR
Salmiak pattern.
KIT
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Large ~95 kb deletion located ~65 kb downstream of the KIT gene.

Wide-band
AR
Length of pheomelanin band in hair
CORIN
corin, serine peptidase
CORIN:C.839G>A - extreme-sunshine Siberian cats.
CORIN:C.2383C>T - sunshine Siberian cats.
CORIN:C.2425C>T copper/flaxen gold/akita British Shorthair/Longhair cats.
CORIN:C.1759C>T - golden tigers.

Further Reading:

Robinson's Genetics for Cat Breeders. This is currently in its 4th Edition (1999) and is the cat breeder's bible. However, further genes and a lot more mutations have been identified since it was published in 1999 and an updated version is eagerly awaited.

MESSYBEAST : BASIC GENETICS FOR BREEDERS & CAT LOVERS

Trait (alleles) OMIA Entry	Inherit- ance Mode	Phenotype	Gene	Gene Name	Mutation
Agouti/Non-agouti (A+, a) 000201-9685	AR	Agouti = Banded fur; non-agouti = solid	ASIP	Agouti-signalling protein	c.122_123delCA
Albinism/Colourpoint: oculocutaneous albinism type I (OCA1), TYR-related (C+, Cb, Cs, cm, c) 000202-9685	AR	Burmese, Mocha, Siamese colour pattern, full albino	TYR	Tyrosinase	cs = c.940G>A (Siamese) cb = c.679G>T (Burmese) c = c.939delc (complete albinism) c = c.1204C>T (albinism) c = c.975delC (albinism) c.820_936delinsAATCTC (Mocha)
Albinism: Pink-Eyed, oculocutaneous, HPS5-related 002116-9685	AR	Donskoy breed "pink-eye," with associated light-brown skin, yellow irises and red-eye effect Hermansky-Pudlak syndrome 5	HPS5	HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2	c.2571-1G>A (Donskoy)
Brachycephaly (Burmese) 001551-9685	Co-D	Burmese	ALX1	ALX homeobox 1	c.497_508del
Brown (B+, b, bl) 001249-9685	AR	Brown, light brown color variants	TYRP1	Tyrosinase related protein	b = -5IVS6 (chocolate) bl = c.298C>T (cinnamon)
Charcoal 002549-9685	AID	Bengal/Savannah charcoal pattern	ASIP	Agouti signalling protein	c.251A>G c.302A>G c.142T>C c.41G>C
Chediak-Higashi Colour Dilution 000185-9685	AR	Persian, washed out smoky dilution with pale eyes.	LYST	lysosomal trafficking regulator	c.8347-2422_9548+1749dup
Colour Dilution (D+, d) 000206-9685	AR	Black to grey/blue, orange to cream	MLPH	Melanophilin	c.83delT
Cutaneous Asthenia 002165-9685	AD	Ehlers-Danlos syndrome, classic type, 1, hyper-elastic skin, winged cats	COL5A1	collagen, type V, alpha 1	c.3420del
Dominant Blue Eyes, Auditory-pigmentary syndrome, PAX3-related 001688-9685	AD	Blue eye colour, Celestial, Maine Coon, Siberian	PAX3	paired box 3	LTR (long terminal repeat) insertion NC_018730.3:g.206974029_206974030insN[395]
Dominant Blue Eyes, Auditory-pigmentary syndrome, PAX3-related	AD	Blue eye colour, Maine Coon	PAX3	paired box 3	PAX3: c.937C>T
Dominant Blue Eyes, Auditory-pigmentary syndrome, PAX3-related 001688-9659	AD	Blue eye colour (unpublished in May 2024)	PAX3	paired box 3
Extension Gee (E+, e) – Amber, Russet, Copal 001199-9685	AR	Brown/red color variant	MC1R	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	c.250G>A (Amber, Norwegian Forest) c.440_442del (Russet, Burmese) c.640_669del (Copal/Carnelian, Kurilian Bobtail)
Ears: Curled Ears (K, k+) 000244-9685	AD	Backward curled ears	Unknown	Unknown	unknown
Ears: Folded Ears (Fd, fd+) 000319-9685	AID	Forward folded ears	TRPV4	transient receptor potential cation channel, subfamily V, member 4	c.1024G>T
Ears: Four Ears (Historic) 000320-9685	AR	Four ears with lethargy and small eyes (C Little, 1957)	Unknown	Unknown	unknown
Hairless: Hypotrichosis, Sphynx (Hr+, hr) 001583-9685	AR	Hypotrichosis, with whiskers short and curled. Hairlessness (Sphynx type)	KRT71	keratin 71, type II	c.816+1G>A
Hairless: Hypotrichosis, Lykoi, Hypotrichia and Roaning, 002229-9685	AR	Partial hairless and roaning, Lykoi breed	HRhairless		c.1255_1256dup c.1404+2delinsCAG c.2112G>A c.2243C>T c.2593C>T c.3389_3390insGACA
Hairless: Hypotrichosis, Birman 001949-9685	AR	Hypotrichosis, with short life expectancy (Birman)	FOXN1	forkhead box N1	c.1030_1033del
Hairless: Hypotrichosis, Don Sphynx 001866-9685	AID	Hairlessness, brush coat (Donskoy & Peterbald)	Unknown	Unknown	unknown
Inhibitor (I, i+) 001584-9685 Silver (I, i+) 001438-9685	AD	Absence of phaeomelanin, silver gene.	Unknown	Unknown	unknown
Longhair (L+, l) 000439-9685	AR	Long fur	FGF5	Fibroblast growth factor 5	c.356_367insT (Ragdoll) c.406C>T, (Norwegian Forest) c.474delT, (Maine Coon, Ragdoll) c.475A>C (Maine Coon) c.577G>A (Maine Coon)
Tail: Japanese Bobtail (J, j+) 001987-9685	AD	Short, kinked tail	HES7	hes family bHLH transcription factor 7	c.5A>G
Tail: Manx, Short tail, Brachyury (M, m+) 000975-9685	AD	Absent/short tail	TBOX	T – box	c.1196del c.1166del c.995delT c.[995_1011dup;1011_1014del]
Munchkin, Chondrodysplasia, UGDH-related 002541-9685	AD	Munchkin short limbs.	UGDH	UDP-glucose 6-dehydrogenase	g.174882895_174886198delinsN[108]
Orange (O, o+)	X linked	Eumelanin (black) to phaeomelanin (red)	Unknown	Unknown	unknown
Polydactyly (Pd, pd+) 000810-9685	AD	Extra toes	SHH	Sonic hedgehog	c.479A>G, c.257G>C, c.481A>T
Polydactyly (Pd, pd+) 000810-9685	AD	Extra toes	LMBR1	Limb Development Membrane Protein 1
Rex: Cornish/German (R+, r) 001684-9685	AR	Curly hair coat (Cornish/German Type)	LPAR6	Lysophosphatidic acid receptor 6	c.250_253delTTTG
Rex: Devon (Re+, re) 001581-9685	AR	Curly hair coat (Devon Type)	KRT71	keratin 71, type II	c.1108-4_1184del, c.1184_1185insAGTTGGAG, c.1196insT
Rex: LaPerm Coat Type 000245-9685	AD	Curly hair coat	Unknown	Unknown	unknown
Rex: Selkirk (RS, rs+) 001712-9685	AD	Curly hair coat (Selkirk type)	KRT71	keratin 71, type II	c.445-1G>C
Rex: Ural 002273-9685	? (all cats tested were homozygous)	Curly Coat (Ural Rex)	LIPH	lipase, member H	c.477_483delinsC
Sunshine/Golden (Siberian) 002159-9685	AR	Sunshine (Siberian)	CORIN	corin, serine peptidase	c.2383C>T (see also "Wideband")
Tabby, Classic/Blotched (TM, tb) 001429-9685	AR	Blotched/classic pattern	TAQPEP	Transmembrane aminopeptidase Q	S59X - c.176C>A (atypical swirl pattern) T139N (classic) D228N - c.682G>A (classic) W841X - c.2522G>A (classic)
Tabby, Ticked (Ta, t) 001484-9685	AD	No tabby pattern, or residual markings at extremities and forehead	DKK4	dickkopf WNT signaling pathway inhibitor 4	c.53C>T (Abyssinian, Burmese, Maine Coon, Oriental shorthair) c.188G>A (Abyssinian)
White (W, w+) 000209-9685	AD	Epistatic White. Loss of pigmentation	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	FERV1 LTR ins
White Gloves/Mitts (Birman) (G+, g) 001580-9685	AR	White feet	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	c.1035_1036delinsCA
White Spotting (W^s or S, s+) 001737-9685	Co-D	Bicolour (from “tuxedo” through to “van”, sometimes solid white (sometimes with temporary “kitten cap” marking)	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	7125ins FERV1 element
Salmiak (W^sal) 001737-9685	AR	Salmiak pattern.	KIT	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Large ~95 kb deletion located ~65 kb downstream of the KIT gene.
Wide-band	AR	Length of pheomelanin band in hair	CORIN	corin, serine peptidase	CORIN:C.839G>A - extreme-sunshine Siberian cats. CORIN:C.2383C>T - sunshine Siberian cats. CORIN:C.2425C>T copper/flaxen gold/akita British Shorthair/Longhair cats. CORIN:C.1759C>T - golden tigers.