Categories: Mortality / aging (incl. embryonic lethal)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive, semi-lethal

Considered a defect: yes

Key variant known: no

Mapping: Jenko et al. (2019): "we searched for haplotypes that carry putatively recessive lethal or semi-lethal alleles in 132,725 genotyped Irish beef cattle from five breeds: Aberdeen Angus, Charolais, Hereford, Limousin, and Simmental. We phased the genotypes in sliding windows along the genome and used five tests to identify haplotypes with absence of or reduced homozygosity. Then, we associated the identified haplotypes with 44,351 insemination records that indicated early embryonic death, and postnatal survival records. ... We found support for one haplotype that carries a putatively recessive lethal (chromosome 16 in Simmental) and two haplotypes that carry semi-lethal alleles (chromosome 14 in Aberdeen Angus and chromosome 19 in Charolais) ... . [Haplotype] CH19H2 is located on chromosome 19 (48,874,999–48,902,319 bp) ... ."

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

Clinical features: Jenko et al. (2019): "CH19H2 was associated with a significantly (p < 0.05) increased hazard ratio for postnatal survival (i.e. decreased survival) of progeny from Hh × Hh matings. ... Progeny of individuals that carried the CH19H2 haplotype had a 36% higher probability of dying or being slaughtered during their life compared to the progeny of HH × HH parents."

Prevalence: The haplotype frequency was 14.4% in 38960 genotyped Charolais animals.

Breed: Charolais (Cattle) (VBO_0000177).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below