Possibly relevant human trait(s) and/or gene(s) (MIM number): 613216

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific description: Kondo et al. (2015) reported "a naturally occurring disease in the beagle dog that is a model for autosomal recessive [complete Congenital Stationary Night Blindness] cCSNB in man"

Molecular basis: Sequencing of candidate genes by Kondo et al. (2015) failed to reveal any likely causal mutations.

Clinical features: Kondo et al. (2015) reported "Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had “negative-type” mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans."

Breed: Beagle.