OMIA 002184-9823 : Abortion due to haplotype LA4 in Sus scrofa
Mendelian trait/disorder: yes Mode of inheritance: Autosomal Recessive Lethal Considered a defect: yes Key variant known: no Species-specific description: Derks et al. (2019) identified five relatively frequent haplotypes for which there was either a deficit or a complete lack of homozygotes in large populations of Landrace (28,085) and Duroc (11,255). One of the four Landrace haplotypes (LA4) is the subject of this entry. LA4 is the only one of the five haplotypes for which a likely causal variant has yet to be identified. Prevalence: Derks et al. (2019) reported the carrier frequency of haplotype LA4 as 4.6%, with 3 observed homozygotes (compared with 14.4 expected). The reduction in litter size (total number born) in carrier x carrier matings, compared with carrier x non-carrier matings, was 18.3%. Breed: Landrace.
|2019||Derks, M.F.L., Gjuvsland, A.B., Bosse, M., Lopes, M.S., van Son, M., Harlizius, B., Tan, B.F., Hamland, H., Grindflek, E., Groenen, M.A.M., Megens, H.J., Derks, M.F.L., Gjuvsland, A.B., Bosse, M., Lopes, M.S., van Son, M., Harlizius, B., Tan, B.F., Hamland, H., Grindflek, E., Groenen, M.A.M., Megens, H.J. :|
|Loss of function mutations in essential genes cause embryonic lethality in pigs. PLoS Genet 15:e1008055, 2019. Pubmed reference: 30875370. DOI: 10.1371/journal.pgen.1008055.|
- Created by Frank Nicholas on 26 Mar 2019
- Changed by Frank Nicholas on 26 Mar 2019
- Changed by Imke Tammen2 on 27 May 2021