OMIA:001910-9913 : Haplotype with homozygous deficiency 11-926, 11-976, 11-1001 and 11,1026 in Bos taurus (taurine cattle)
Categories: Mortality / aging (incl. embryonic lethal)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive lethal
Considered a defect: yes
Key variant known: no
Mapping: By genotyping each of 7,937 Nordic Holstein bulls with the BovineSNP50 BeadChip, yielding 36,387 informative autosomal SNPs, and then searching for 25-marker haplotypes that never occur as a homozygote where the minimum expectation is 6 occurrences, Sahana et al. (2013) "identified 17 homozygote deficient haplotypes which could be loosely clustered into eight genomic regions harboring possible recessive lethal alleles". One of these eight regions is marked by haplotypes 11-926, 11-976, 11-1001 and 11-1026 located between 55.3 and 63.8 Mb on chromosome BTA11.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Holstein (black and white) (Cattle) (VBO_0000237).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
|2013||Sahana, G., Nielsen, U.S., Aamand, G.P., Lund, M.S., Guldbrandtsen, B. :|
|Novel harmful recessive haplotypes identified for fertility traits in nordic holstein cattle. PLoS One 8:e82909, 2013. Pubmed reference: 24376603. DOI: 10.1371/journal.pone.0082909.|
- Created by Frank Nicholas on 12 Feb 2014
- Changed by Frank Nicholas on 12 Feb 2014