Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601496 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2013

Species-specific symbol: FMA

Species-specific description: Tremors and astasia, as a consequence of hypoplasia of the forelimb-girdle muscles

Mapping: Via a genome scan involving 258 microsatellites, Masoudi et al. (2007) mapped this disorder to the middle of chromosome BTA26. Subsequent fine-mapping narrowed down the candidate region to "a 3.5-Mb interval on BTA26 between BM4505 and MOK2602" (Masoudi et al., 2007).

Markers: Maosoudi et al. (2007) reported successful marker-assisted selection against carriers of this disorder, based on genotyping for four microsatellites.

Molecular basis: By comparing sequence in the candidate region (see Mapping section above) of a carrier bull with the bovine reference sequence, Akiyama et al. (2013) identified a causal mutation as "a nucleotide substitution of C to T in exon 4 of the glial cell line derived neurotrophic factor family receptor alpha 1 (GFRΑ1) gene result[ing] in a Q144X mutation".

Breed: Japanese Black, Japan (Cattle) (VBO_0004987).
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: