Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 516020 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Mitochondrial

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2019

Molecular basis: Pal et al. (2019) identified several variants in ovine cytochome B. Two non-synonymous SNPs (variant B: c.99T>G leading to p.(F33L); variant c: c.511G>A leading to p.(D171N) and ) and a deletion mutation (variant D: leading to a truncated Cytochrome B protein of 289 amino acids) were associated with extreme debility in Garole sheep.

Clinical features: Pal et al. (2019): "The sheep with the mutated form of cytochrome B (Variant B, C, and D) were observed to show exercise intolerance ... sub-normal body temperature, tachycardia, weak and feeble pulse, tachypnoea and animals were extremely debilitated with muscle weakness ... . The sheep were unable to rise and stand on its own. Cases of cardiomyopathy for the sheep with Variant D was confirmed by ECG." Several haematological properties and liver and kidney function were reported as abnormal for some of the variants.

Breed: Garole, India (Sheep) (VBO_0016038).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: