Categories: Limbs / fins / digit / tail phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 608059 (gene) , 613686 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: 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).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: