In other species: taurine cattle , North American deer mouse

Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 109270 (gene) , 182900 (trait) , 612653 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: no

Species-specific name: Hereditary spectrin deficiency

Species-specific description: Slappendel et al. (2005) were the first to describe hereditary spectrin deficiency in dogs: "A radioimmunoassay revealed that erythrocyte spectrin concentration was 50-65% of normal in 5 adult Golden Retriever dogs, which had recovered from hemolytic anemia but whose OF [osmotic fragility] had persistently remained increased. OF also was increased and spectrin concentration was decreased (60-73%) in 10 dogs of an apparently healthy family of 19 Golden Retrievers related to a proband. Pedigree analysis revealed autosomal dominant inheritance. ... It is not clear whether spectrin deficiency in Golden Retrievers may result in hemolytic anemia, as in humans."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Golden Retriever (Dog) (VBO_0200610).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below