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OMIA 001721-32536 : Coat colour, king in Acinonyx jubatus

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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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Coat colour, king LVRN insertion, small (<=20) p.N977Kfs110 2012 22997338
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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.

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  • Created by Frank Nicholas on 11 Oct 2012
  • Changed by Frank Nicholas on 11 Oct 2012