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Spermatogenic failure, QRICH2-related — low sperm count and immotile sperm with multiple morphological abnormalities

Hiltpold et al. (2022) investigated a Brown Swiss bull with low semen quality: "The genome of this bull was sequenced at a 12× coverage to investigate a possible genetic cause. Comparing the sequence variant genotypes of this bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of the QRICH2 gene which encodes the glutamine rich 2 protein, as a compelling candidate causal variant. This 1-bp deletion causes a f...

OMIA ID: 2848Inheritance: 11Characterised: YesYear: 2022