OMIA 002407-9940 : Exercise intolerance, cytochrome B-related in Ovis aries

Possibly relevant human trait(s) and/or gene(s) (MIM number): 516020 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Mitochondrial

Considered a defect: 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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYTB cytochrome b Ovis aries MT NC_001941.1 (14159..15298) CYTB Homologene, Ensembl, NCBI gene

Reference


2019 Pal, A., Pal, A., Banerjee, S., Batabyal, S., Chatterjee, P.N. :
Mutation in Cytochrome B gene causes debility and adverse effects on health of sheep. Mitochondrion 46:393-404, 2019. Pubmed reference: 30660753. DOI: 10.1016/j.mito.2018.10.003.

Edit History


  • Created by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 28 Aug 2021