In other species: taurine cattle

Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 215700 (trait) , 603470 (gene)

Links to MONDO diseases:

• MONDO:0008988: citrullinemia type I

Mendelian trait/disorder: unknown

Considered a defect: 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.”

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing