Search Phenotypes

Abortion (embryonic lethality), EXOSC4-related

Charlier et al. (2016): nonsense (stop-gain) p.Arg64∗

OMIA ID: 2042Inheritance: 6Characterised: YesYear: 2016

Abortion (embryonic lethality), MED22-related

Charlier et al. (2016): frameshift p.Leu38Argfs∗25

OMIA ID: 2043Inheritance: 6Characterised: YesYear: 2016

Haplotype with homozygous deficiency MH1

For eight of the nine haplotypes with a significant effect on calving rate (see Mapping section), Fritz et al. (2013) searched for causal mutations via whole-genome sequence data from 25 Holstein, 11 Montbéliarde and nine Normande bulls which had made major contributions to their breed. Specifically, they filtered "for mutations that were (a) located at+or –6 Mb from the detected haplotype (b) carried in the heterozygous state by the carrier b...

OMIA ID: 1827Inheritance: 6Characterised: YesYear: 2013

Haplotype with homozygous deficiency MH2

For eight of the nine haplotypes with a significant effect on calving rate (see Mapping section), Fritz et al. (2013) searched for causal mutations via whole-genome sequence data from 25 Holstein, 11 Montbéliarde and nine Normande bulls which had made major contributions to their breed. Specifically, they filtered "for mutations that were (a) located at+or –6 Mb from the detected haplotype (b) carried in the heterozygous state by the carrier b...

OMIA ID: 1828Inheritance: 6Characterised: YesYear: 2013