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Albino colour variant

General · Cat

Recessive variant of the C locus (TYR gene, tyrosinase) that produces a total absence of pigment in hair, skin and eyes. The c/c genotype presents a white coat, pink skin and very pale blue or reddish eyes due to reflection from the retinal vessels. It is distinct from dominant white coat (W gene) and from the Siamese/Burmese pattern (cs and cb alleles). It is not associated with systemic disease, although it increases sensitivity to sunlight.
Inheritance patternAutosomal recessive; allelic series of the C locus (TYR): C (full colour) > cb (Burmese) > cs (Siamese) > c (albino), with c being the most recessive allele. Albino requires the c/c genotype.
Gene / MutationTYR (c allele) c.939del p.(S314Pfs*9); NC_058377.1:g.44012999del (OMIA:000202-9685). Originally published as a cytosine deletion at position 975 of exon 2 (renumbered by the 3' rule).
PenetranceComplete penetrance in c/c homozygotes. Carrier heterozygotes (C/c, cb/c or cs/c) do not show the albino phenotype.
Sample typesangre con EDTA 1mL
Codesnlh
Turnaround time15 days
Price52,60 €
Breedstodas las razas

Incidence

Rare variant in all breeds. There are no reliable allele frequency figures; limited data. The frequency is higher in lines specifically selected for the albino phenotype.

Clinical signs

- Totally white coat from birth
- Pink skin and paw pads
- Very pale blue or reddish eyes due to vascular reflection
- Greater sensitivity to sunlight (no protective melanin)
- No associated deafness (unlike dominant white W)

History

The cat's C allelic series (full C, Burmese cb, Siamese cs, albino c) was genetically characterised throughout the 20th century by classical inheritance studies. At the molecular level, the cs and cb variants were associated with mutations of the TYR gene in 2006, which allowed the albino series of the species to be explained. The c variant (true albino) is rare in registered feline populations and its specific molecular characterisation has fewer published series than the Siamese and Burmese variants. The naming of the C allelic series has remained stable in feline nomenclature. The genetic test distinguishes the cb, cs and c alleles when included in the panel.

Breeder management

- To produce albino: mate c/c x c/c, or c/c x carrier (50% albino, 50% carrier)
- Always differentiate the TYR albino (c/c) from dominant white (W/W), which can be associated with deafness: use the genotype
- Do not prioritise albino as a breeding goal in lines that do not have an explicit colour programme
- Inform the buyer of the animal's sun sensitivity and of the need to avoid prolonged exposure

Specialist notes

The TYR albino has a higher risk of sunburn and actinic lesions in exposed areas (ears, eyelids, nose); recommend environmental photoprotection. Always differentiate from W/W (dominant white) by genotyping: the albino's eye blue is paler and different from the blue of dominant white. Genetic testing allows the cb, cs and c alleles of the C locus to be distinguished.

References

1. Imes DL et al. 2006, mutaciones de TYR asociadas con el patrón colourpoint siamés y burmés del gato
2. Lyons LA 2015, DNA mutations of the cat: the good, the bad and the ugly (revisión)
3. Imes DL et al. 2006. Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation.. PMID: 16573534

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Price: 52,60 € · Turnaround time: 15 days

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