In other species: horse

Categories: Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 600899 (gene) , 615966 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2002

Species-specific name: Combined immunodeficiency disease

Species-specific symbol: SCID

Species-specific description: See: 'OMIA:001574-9615 : Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Canis lupus familiaris' for a autosomal severe combined immunodeficiency due genetic variants in the RAG1 gene.

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Ding et al. (2002) identied a causal mutation in the canine DNA-PKcs gene as "a point mutation [which] results in a stop codon at nucleotide 10,828 and premature termination at a position 517 amino acids before the normal C terminus resulting in a functionally null allele". The gene is now called PRKDC in dogs and DNAPK in horses (in which the same disorder is due to mutations in the homologous gene).

Breed: Jack Russell Terrier (Dog) (VBO_0200724).
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: