In other species: horse , taurine cattle , indicine cattle (zebu)

Categories: Reproductive system phene , Mortality / aging (incl. embryonic lethal)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Deviation from Mendelian inheritance expectations / transmission ratio distortion (TDR) identified in the analysis of single nucleotide polymorphism data. Identified haplotypes with homozygous deficiency can indicate the presence of (embryonic) recessive lethal or semi-lethal alleles in a population.

Mapping: Abdalla et al. (2020): “Deviation from Mendelian inheritance expectations (transmission ratio distortion, TRD) … was characterized in the turkey genome using both allelic (specific‐ and unspecific‐parent TRD) and genotypic (additive‐ and dominance‐TRD) parameterizations within a Bayesian framework. In this study, we evaluated TRD for 23 243 genotyped Turkeys across 56 393 autosomal SNPs. …The two methods revealed relevant regions across the turkey genome with either a classical recessive inheritance pattern (i.e. lethal only in the homozygous state) or allelic patterns (i.e. reduced viability of the carrier offspring). …. Based on the genotypic parameterizations, 14 haplotypes showed additive and dominance TRD effects highlighting regions with a recessive TRD pattern. In contrast, the allelic model uncovered 12 haplotype alleles with the allelic TRD pattern which showed an underrepresentation of heterozygous offspring in addition to the absence of homozygous animals.”

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