OMIA:001721-32536 : Coat colour, king in Acinonyx jubatus |
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 610046 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2012
Species-specific description: The characteristics of this coat colour pattern are described by Kaelin et al. (2012) as "the black spots coalesce into larger areas, and multiple longitudinal black stripes appear on the dorsum".
Inheritance: van Aarde and van Dyk (1986) reported that the characteristic coat colour pattern of King cheetahs is a single-locus autosomal recessive trait. Previously, the King cheetah had been regarded as a separate species (Pocock, 1927).
Molecular basis: Kaelin et al. (2012) reported the causal mutation as "a base pair insertion in exon 20 [of the cheetah Taqpep gene], predicting a frameshift that replaces what would normally be the carboxy-terminal 16 amino acids with 109 new residues (N977Kfs110".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| Taqpep | Acinonyx jubatus | - | no genomic information (-..-) | Taqpep | Ensembl |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 605 | Coat colour, king | LVRN | insertion, small (<=20) | Naturally occurring variant | p.(N977Kfs*110) | 2012 | 22997338 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2012 | Kaelin, C.B., Xu, X., Hong, L.Z., David, V.A., McGowan, K.A., Schmidt-Küntzel, A., Roelke, M.E., Pino, J., Pontius, J., Cooper, G.M., Manuel, H., Swanson, W.F., Marker, L., Harper, C.K., van Dyk, A., Yue, B., Mullikin, J.C., Warren, W.C., Eizirik, E., Kos, L., O'Brien, S.J., Barsh, G.S., Menotti-Raymond, M. : |
| Specifying and sustaining pigmentation patterns in domestic and wild cats. Science 337:1536-41, 2012. Pubmed reference: 22997338 . DOI: 10.1126/science.1220893. | |
| 1986 | van Aarde, R.J., van Dyk, A. : |
| Inheritance of the king coat colour pattern in cheetahs Acinonyx jubatus Journal of Zoology 209:573-578, 1986. DOI: 10.1111/j.1469-7998.1986.tb03612.x . | |
| 1927 | Pocock, R.I. : |
| Description of a new species of cheetah (acinonyx) Proceedings of the Zoological Society of London 97:245 only, 1927. |
Edit History
- Created by Frank Nicholas on 11 Oct 2012
- Changed by Frank Nicholas on 11 Oct 2012