OMIA:001442-9913 : Forelimb-girdle muscular anomaly in Bos taurus (taurine cattle)
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 601496 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: 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".
Have human generated variants been created, e.g. through genetic engineering and gene editing
Japanese Black, Japan (Cattle) (VBO_0004987).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GFRA1||GDNF family receptor alpha 1||Bos taurus||26||NC_037353.1 (36696516..36464988)||GFRA1||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|
|293||Japanese Black, Japan (Cattle)||Forelimb-girdle muscular anomaly||GFRA1||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||26||g.36627244G>A||c.430C>T||p.(Q144*)||2013||Reference not in PubMed; see OMIA 001442-9913 for reference details||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Cite this entry
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.
|2013||Akiyama, K., Hirano, T., Masoudi, A.A., Uchida, K., Tsuji, T., Kumagai, T., Ohwada, K., Sugimoto, Y., Kunieda, T. :|
|A mutation of the GFRF1 gene is responsible for forelimb-girdle muscular anomaly (FMA) of Japanese Black cattle. Plant and Animal Genome XXI Abstract P0555, 2013.|
|2008||Masoudi, AA., Uchida, K., Yokouchi, K., Ohwada, K., Abbasi, AR., Tsuji, T., Watanabe, T., Hirano, T., Sugimoto, Y., Kunieda, T. :|
|Linkage mapping of the locus responsible for forelimb-girdle muscular anomaly of Japanese black cattle on bovine chromosome 26. Anim Genet 39:46-50, 2008. Pubmed reference: 18254734. DOI: 10.1111/j.1365-2052.2007.01679.x.|
|2007||Masoudi, A.A., Uchida, K., Yokouchi, K., Miyadiera, K., Ogawa, H., Sugimoto, Y., Kunieda, T. :|
|Marker-assisted selection for forelimb-girdle muscular anomaly of Japanese Black cattle Animal Science Journal 78:672-675, 2007.|
- Created by Frank Nicholas on 29 Oct 2007
- Changed by Frank Nicholas on 04 Jan 2013
- Changed by Imke Tammen2 on 08 Oct 2023