OMIA 001987-9685 : Tail, short and kinked (Japanese bobtail) in Felis catus

Mendelian trait/disorder: unknown

Considered a defect: yes

Year key variant first reported: 2016

Molecular basis: Lyons et al. (2016): c.5A>G; p.V2A in Japanese Bobtail

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

Variants

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

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.
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.

Edit History


  • Created by Frank Nicholas on 02 Apr 2016
  • Changed by Frank Nicholas on 02 Apr 2016
  • Changed by Frank Nicholas on 30 Aug 2016