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OMIA 001961-9940 : Fecundity, Vacaria, FecG(V) in Ovis aries

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2014

Species-specific description: The effect of this allele was described by Souza et al. (2014) as "Vacaria heterozygotes had higher OR (P<0.001), averaging 2.1 +/- 0.1 when compared to 1.2 +/- 0.1 in wild-type ewes. The OR was also influenced by age, increasing in the second and third breeding seasons (P<0.001). In flocks segregating this allele, the LS was higher in mutant sheep (P<0.001), averaging 1.61 +/- 0.07 in heterozygotes and 1.29 +/- 0.03 in wild-type ewes. Analysis of homozygote reproductive tract morphology revealed uterine and ovarian hypoplasia. Ovarian follicles continue to develop up to small antral stages, although with abnormal oocyte morphology and altered arrangement of granulosa cells. After the collapse of the oocyte in most follicles, the remaining cells formed clusters that persisted in the ovary."

Molecular basis: The FecG(V) allele is a missense mutation: c.943C>T; p.Arg315Cys in the cleavage site of the propeptide encoded by GDF9 (Souza et al., 2014)

Breed: Ile de France.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GDF9 growth differentiation factor 9 Ovis aries 5 NC_040256.1 (46547527..46544800) GDF9 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
Ile de France Fecundity, Vacaria, FecG(V) GDF9 missense Oar_v3.1 5 g.41841453C>T c.943C>T p.R315C 2014 25039891 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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Reference


2014 Souza, C.J., McNeilly, A.S., Benavides, M.V., Melo, E.O., Moraes, J.C. :
Mutation in the protease cleavage site of GDF9 increases ovulation rate and litter size in heterozygous ewes and causes infertility in homozygous ewes. Anim Genet 45:732-9, 2014. Pubmed reference: 25039891. DOI: 10.1111/age.12190.

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  • Created by Frank Nicholas on 30 Apr 2015