Illustrating the enormous power of genomic tools, Wiedemar et al. (2015) were able to identify a likely causal mutation for a previously unrecorded disease phenotype in just a single calf.
OMIA ID:1978Inheritance: N/ACharacterised: YesYear: 2015
On the strength of a clear candidate gene in which mutations cause the same disorder in dogs (OMIA 001003-9615), Boudreaux et al. (2007) reported that this disorder in a Simmental calf is due to a missense mutation (c.701T>C) in the CalDAG-GEFI gene which is now called RASGRP2. Jansen et al. (2013) reported that "Sanger sequencing confirmed that all thrombopathic animals are homozygous for the [same] pertinent amino acid exchange (c.701T &g...
OMIA ID:2433Inheritance: 5Characterised: YesYear: 2007
Cloning and sequencing of the bovine gene encoding molybdopterin cofactor sulfurase (MCSU, now called MOCOS) in normal and affected cattle, by Watanabe et al. (2000), revealed the causal mutation to be a 3bp deletion (c.769_771delTAC) of codon 257 (deleting Tyr) in the MOCOS gene (omia.variant:446). Murgiano et al. (2016) discovered a different mutation in the MUCOS gene as the likely cause in Tyrolean Grey cattle: "1 bp deletion in the molybd...
OMIA ID:1819Inheritance: Pedigree analysis by Watanabe et al. (2000) revealed autosomal recessive inhe...Characterised: YesYear: 2000
