In other species: turkey , horse , taurine cattle

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: Schmidt et al. (2023) screened "the Nellore cattle genome for lethal recessive haplotypes based on deviation from the expected population homozygosity, and to test SNP markers surrounding the lethal haplotypes region for association with heifer rebreeding (HR), post-natal mortality (PNM) and stayability (STAY). ... A total of 62,022 animals were genotyped and imputed to a high-density panel (777,962 SNP markers). ... Thirty haplotypes had high expected frequency, while no homozygotes were observed. Most of the alleles present in these haplotypes had a negative mean effect for PNM, HR and STAY." The positions of the 30 haplotypes in the ARS-UCD1.2 Bos taurus genome are: BTA 1: 21,773,327 - 22,571,004 BTA 1: 92,201,954 - 93,179,359 BTA 2: 30,989,280 - 31,660,659 BTA 2: 125,601,735 - 126,602,788 BTA 3: 27,103,538 - 27,639,143 BTA 3: 84,166,546 - 84,882,788 BTA 3: 97,862,526 - 98,537,136 BTA 5: 19,466,593 - 20,216,556 BTA 5: 99,424,373 - 100,174,866 BTA 7: 19,468,345 - 20,417,099 BTA 7: 36,554,986 - 37,251,910 BTA 7: 80,932,886 - 81,622,237 BTA 7: 106,846,493 - 107,525,464 BTA 8: 78,277,928 - 79,262,115 BTA 8: 84,943,889 - 85,809,360 BTA 9: 42,710,447 - 43,514,053 BTA 9: 43,515,752 - 44,346,392 BTA 9: 48,144,835 - 48,978,466 BTA 9: 72,521,066 - 73,292,804 BTA 10: 85,722,335 - 86,530,381 BTA 12: 31,305,864 - 32,200,052 BTA 17: 65,952,250 - 66,468,921 BTA 18: 9,785,118 - 10,380,109 BTA 18: 36,265,657 - 37,406,377 BTA 19: 20,292,526 - 21,133,267 BTA 19: 54,651,560 - 55,237,521 BTA 22: 18,857,788 - 19,688,790 BTA 22: 46,693,982 - 47,385,511 BTA 24: 18,329,342 - 19,105,911 BTA 29: 40,482,004 - 41,207,696

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