Phenotypes

Reynolds et al. (2021) report a FGD4 c.1671+1G>A splice donor mutation in New Zealand dairy cattle as likely causal variant for the the bodyweight QTL and Charcot Marie Tooth disease.

No summary available.

Jacinto et al. (2021) characterized "the pathological phenotype of a Romagnola stillborn calf with skeletal-cardio-enteric dysplasia and ... [identified] a genetic cause by whole-genome sequencing (WGS)."

This single-locus autosomal dominant trait confers increased thermotolerance within the breeds in which it originated (Senepol and Carora; Olsen et al., 2003) and also within Hosteins, into which it was introgressed (Dikmen et al., 2008; 2014). In the USA, FDA determined in March 2022 that beef cattle with a genome edit to the PRLR gene and their offspring do not raise any safety concerns. "Based on the safety of consumption of meat from conve...

Duchesne et al. (2017) identified SNPs in the mapped candidate region by comparison of whole-genome sequence of two homozygous affecteds, one heterozygote and one homozygote normal. Filtering of those SNPs by consistency with presumed genotype based on pedigree, with occurrence only within this breed, and by severity of presumed function enabled Duchesne et al. (2017) to identifiy a "C/T SLC25A46 substitution [c.376C>T that] leads to replac...