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