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OMIA 001957-9913 : Haplotype with homozygous deficiency FH1 in Bos taurus

Category: 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

Species-specific symbol: FH1

Mapping: Chromosome BTA1: 1,668,494-6,187,555 (UMD3.1 genome assembly) (Pausch et al., 2015)

Breed: Simmental (Cattle) (VBO_0000380).

Reference

2015 Pausch, H., Schwarzenbacher, H., Burgstaller, J., Flisikowski, K., Wurmser, C., Jansen, S., Jung, S., Schnieke, A., Wittek, T., Fries, R. :
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle. BMC Genomics 16:312, 2015. Pubmed reference: 25927203. DOI: 10.1186/s12864-015-1483-7.

Edit History


  • Created by Frank Nicholas on 28 Apr 2015
  • Changed by Frank Nicholas on 28 Apr 2015