In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 227500

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

Molecular basis: By sequencing the most likely candidate gene (based on a prolonged prothrombin time in the presence of a normal partial thromboplastin time) in a single Asian elephant, Lynch et al. (2017) identified the likely causal mutation as "a single homozygous point mutation (c.202A.G) in the F7 gene of the FVII deficient elephant that was not present in unrelated elephants. This mutation causes an amino acid substitution (p.Arg68Gly) that is predicted to be deleterious."

Clinical features: As reported by Lynch et al. (2017), "Consistent with FVII deficiency investigations in other species, the condition did not cause a serious bleeding tendency in this individual elephant".

Associated gene: