In other species: taurine cattle

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 215700 (trait) , 603470 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0008988: citrullinemia type I

Mendelian trait/disorder: unknown

Disease-related: yes

Cross-species summary: The clinical signs of this disorder result from ammonia poisoning, due to a fault in the urea cycle. This cycle is the biochemical process by which potentially toxic ammonia (a by-product of catabolism of proteins) is converted to urea, which is excreted in urine. The fault in the cycle arises from a deficiency of one of the enzymes involved in the cycle, namely argininosuccinate synthetase (ASS). The absence of this enzyme leads to a buildup of citrulline and, more seriously, of ammonia.

Species-specific description: Sudhakar et al. (2023) investigated introgression of lethal alleles from taurine cattle into Bos taurus × Bos indicus and Bos indicus cattle in India: “Breed purity analysis confirmed inheritance of Bos taurus genes contributing to the presence of lethal mutant alleles like BLAD, Citrullinemia, HH1, and JH1 in apparently phenotypic Bos indicus animals.”