Search Phenotypes

Abortion (embryonic lethality), MYH6-related

Charlier et al. (2016): deletion p.Lys1730del

OMIA ID: 2039Inheritance: 6Characterised: YesYear: 2016

Hemimelia, tibial

See also: 'OMIA:001009-9915 : Hemimelia, tibial in Bos indicus'

OMIA ID: 1009Inheritance: 5Characterised: YesYear: 2012

Hypotrichosis, streaked — Streaked hairlessness

Murgiano et al. (2015) investigated a family of Pezzata Rossa cattle with 4 affected cows. The pedigree was suggestive of X-linked semi-dominant inheritance with lethality in hemizygous mutant males. Two autosomal segments on chromosome 7 and 14 also showed positive LOD scores in a linkage analysis and could not definitively be excluded. Whole genome sequencing of one affected cow at 28x coverage and comparison to the 1000 bull genomes' sequen...

OMIA ID: 542Inheritance: Eldridge and Atkeson (1953) reported extensive Holstein-Friesian data strongl...Characterised: YesYear: 2015

Myopathy of the diaphragmatic muscles

From a BAC contig encompassing the candidate region of the bovine MHC (see Mapping section above), Sugimoto at al. (2003) determined that this disorder in Holstein-Friesian cattle is due to the deletion of one of two HSP70 (heat-shock protein) genes in the bovine major histocompatibility complex.

OMIA ID: 1319Inheritance: 5Characterised: YesYear: 2003