OMIA:001987-9685 : Tail, short and kinked (Japanese bobtail) in Felis catus
Categories: Limbs / digit / tail phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 608059 (gene) , 613686 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2016
Species-specific name: Bobtail, bobbed tail
Species-specific description: Japanese Bobtail cats have such a shortened and kinked tail. Show-quality standards require the cat to have a tail length under 3 inches (Pollard et al., 2015). The shortened tail in this breed is caused by a different mutation and gene compared to the tailless Manx phenotype (OMIA 000975-9685).
History: "Cats with shortened and kinked tails were first recorded in the Malayan archipelago by Charles Darwin in 1868 and remain quite common today in Southeast and East Asia." (Xu et al. 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.
Clinical features: Pollard et al. (2015): "radiological examinations of the entire vertebral column of kink-tailed cats indicated variation from the normal vertebral feline formula (C7, T13, L7, S3, Cd20-24), including cats with mostly one reduction of thoracic vertebrae (C7, T12, L7, S3), and an average of 15.8 caudal vertebrae. A few cats had variation in the number of cervical vertebrae. Several transitional vertebrae and anomalous ribs were noted. One cat had a bifid vertebra in the tail. Most cats had hemivertebrae that were usually included in the tail kink, one of which was demonstrated by gross pathology and histopathology. The abnormal vertebral formula or the placement of the kink in the tail did not coincide with morbidity or mortality."
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."
Breed: Japanese Bobtail (Cat) (VBO_0100128).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HES7||hes family bHLH transcription factor 7||Felis catus||E1||NC_058381.1 (2907655..2902287)||HES7||Homologene, Ensembl , NCBI gene|
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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|
|145||Japanese domestic||Bobtail||HES7||JBT||missense||Naturally occurring variant||Felis_catus_9.0||E1||g.2918735A>G||c.5A>G||p.(V2A)||XM_003996191.4:c.5T>C; Felis_catus_6.2: g.2819475A>G||2016||27030474||The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)|
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.
|2021||Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :|
|A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770 . DOI: 10.1038/s41598-021-86200-7.|
|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.|
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