OMIA 001442-9913 : Forelimb-girdle muscular anomaly in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601496 (gene)

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".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GFRA1 GDNF family receptor alpha 1 Bos taurus 26 NC_037353.1 (36696498..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 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


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.

Edit History

  • Created by Frank Nicholas on 29 Oct 2007
  • Changed by Frank Nicholas on 04 Jan 2013