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_019462.2 (41770600..41767870) | GDF9 | Homologene, Ensembl, NCBI gene |
Variants
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 required column headers
| 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 |
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. |
Edit History
- Created by Frank Nicholas on 30 Apr 2015