Spinal muscular atrophy
Phenotype Details
- Phene ID
- 1634
- Name
- Spinal muscular atrophy
- Phene Name
- N/A
- OMIA ID
- 939
- Species ID
- 9913
- Characterised
- No
- Characterised Year
- N/A
Summary
Information relating to spinal muscular atrophy in Braunvieh has been moved to: OMIA 002390-9913 : Spinal muscular atrophy, KDSR-related in Bos taurus
Molecular Genetics
Cagnotti et al. (2020) reported that spinal muscular atrophy in an Italian family of the Blonde d'Aquitaine breed is not due to any mutation in FVT1/KDSR. A likely causal variant in the KDSR gene has been reported for spinal muscular atrophy in Braunvieh (Krebs et al., 2007; OMIA 002390-9913 : Spinal muscular atrophy, KDSR-related in Bos taurus).