OMIA 002273-9685 : Curly coat, Ural Rex in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 604379

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2020

Molecular basis: Manakhov et al. (2020) reported that "A LIPH genetic variant (LIPH :c.478_483del; LIPH:p.Ser160_Gly161del) was found [to be homozygous] in [all tested] Ural Rex cats with curly coats from Russia, but was absent in all other cat breeds tested."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LIPH lipase, member H Felis catus C2 NC_018731.3 (84115730..84162271) LIPH Homologene, Ensembl, NCBI gene

Variants

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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.

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
Ural Rex Curly coat, Ural Rex LIPH deletion, small (<=20) Felis_catus_9.0 C2 g.84136342_84136347del c.478_483del p.(Ser160_Gly161del) 2020 32463158

Reference


2020 Manakhov, A.D., Andreeva, T.V., Rogaev, E.I. :
The curly coat phenotype of the Ural Rex feline breed is associated with a mutation in the lipase H gene. Anim Genet :, 2020. Pubmed reference: 32463158. DOI: 10.1111/age.12958.

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  • Created by Frank Nicholas on 02 Jun 2020