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OMIA 001763-9940 : Fecundity, Norwegian White Sheep in Ovis aries

Mendelian trait/disorder: no

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2012

Mapping: Using the sheep SNP50 bead chip to conduct a GWAS for litter size estimated breeding value (EBV) on 378 progeny-tested Norwegian White Sheep rams, Våge et al. (2012) identified a QTL on chromosome OAR5, very near to the GDF9 gene, mutations in which have large effects on fecundity in other breeds of sheep. Subsequent sequencing of this gene in the most extreme sires revealed a SNP "(c.1111G>A), responsible for a Val->Met substitution at position 371 (V371M). This polymorphism has previously been identified in Belclare and Cambridge sheep, but was not found to be associated with fertility." The authors concluded that "Based on the estimated breeding values, daughters of AI rams homozygous for c.1111A will produce minimum 0.46 - 0.57 additional lambs compared to daughters of wild-type rams."

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

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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
Norwegian White Fecundity, Norwegian White Sheep GDF9 missense Oar_v3.1 5 g.41841285G>A c.1111G>A p.V371M 2013 23280002 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
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Reference


2013 Våge, D.I., Husdal, M., Kent, M.P., Klemetsdal, G., Boman, I.A. :
A missense mutation in growth differentiation factor 9 (GDF9) is strongly associated with litter size in sheep. BMC Genet 14:1, 2013. Pubmed reference: 23280002. DOI: 10.1186/1471-2156-14-1.

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  • Created by Frank Nicholas on 05 Jan 2013