OMIA 001987-9685 : Tail, short and kinked (Japanese bobtail) in Felis catus
Xu et al. (2016) identified the same likely causal mutation in Chinese short-tailed feral cat, and confirmed it in Japanese Bobtail.Prevalence: AS reported by Lyon et al. (2016): "A sub-set of cats was genotyped for the HES7 variant, supporting the variant as private to the Japanese bobtail breed." Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HES7||hes family bHLH transcription factor 7||Felis catus||E1||NC_018736.3 (2921200..2916155)||HES7||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
|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|
|Japanese domestic||Bobtail||HES7||missense||Felis_catus_6.2||E1||g.2819475A>G||c.5A>G||p.V2A||2016||27030474||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2016||Lyons, L.A., Creighton, E.K., Alhaddad, H., Beale, H.C., Grahn, R.A., Rah, H., Maggs, D.J., Helps, C.R., Gandolfi, B. :|
|Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. BMC Genomics 17:265, 2016. Pubmed reference: 27030474. DOI: 10.1186/s12864-016-2595-4.|
|Xu, X., Sun, X., Hu, X.S., Zhuang, Y., Liu, Y.C., Meng, H., Miao, L., Yu, H., Luo, S.J. :|
|Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats. Sci Rep 6:31583, 2016. Pubmed reference: 27560986. DOI: 10.1038/srep31583.|
|2015||Pollard, R.E., Koehne, A.L., Peterson, C.B., Lyons, L.A. :|
|Japanese Bobtail: vertebral morphology and genetic characterization of an established cat breed. J Feline Med Surg 17:719-26, 2015. Pubmed reference: 25488973. DOI: 10.1177/1098612X14558147.|
- Created by Frank Nicholas on 02 Apr 2016
- Changed by Frank Nicholas on 02 Apr 2016
- Changed by Frank Nicholas on 30 Aug 2016