OMIA:000439-10141 : Hair, long in Cavia porcellus
Categories: Integument (skin) phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2018
Cross-species summary: Long hair = angora
Inheritance: Yu et al. (2018): "This mutation was genotyped by direct sequencing analysis in 141 short‐haired and 70 long‐haired individuals. We found 104 homozygous CC and 37 heterozygous CT short‐haired individuals, whereas all long‐haired individuals were homozygous TT, indicating that the long‐haired phenotype is inherited as a recessive trait as in other mammalian species."
Molecular basis: By sequencing the obvious comparative candidate gene, Yu et al. (2018) discovered a likely causal variant for long-haired guinea pigs to be "a nonsense mutation (c.403C>T, p.Arg135Xaa) in exon 2 [of FGF5] . . . , which leads to a truncated protein of 134 amino acids."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|Fgf5||fibroblast growth factor 5||Cavia porcellus||NT_176414.1 (4323394..4341232)||Fgf5||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
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|
|982||Long hair||Fgf5||nonsense (stop-gain)||Naturally occurring variant||c.403C>T||p.(R135*)||"The data were submitted to the European Variation Archive (accession no. PRJEB24997)"||2018||29603294|
Cite this entry
|2018||Yu, F., Liu, Z., Jiao, S., Zhang, X., Bai, C., Zhang, J., Yan, S., Yu, F., Liu, Z., Jiao, S., Zhang, X., Bai, C., Zhang, J., Yan, S. :|
|A nonsense mutation in the FGF5 gene is associated with the long-haired phenotype in domestic guinea pigs (Cavia porcellus). Anim Genet 49:269, 2018. Pubmed reference: 29603294 . DOI: 10.1111/age.12656.|
- Created by Frank Nicholas on 09 Apr 2018
- Changed by Frank Nicholas on 09 Apr 2018
- Changed by Frank Nicholas on 15 May 2020