OMIA 001486-9615 : Night blindness, congenital stationary in Canis lupus familiaris
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.
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2018||Oh, A., Loew, E.R., Foster, M.L., Davidson, M.G., English, R.V., Gervais, K.J., Herring, I.P., Mowat, F.M. :|
|Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs? Doc Ophthalmol :, 2018. Pubmed reference: 30051304. DOI: 10.1007/s10633-018-9653-y.|
|2015||Kondo, M., Das, G., Imai, R., Santana, E., Nakashita, T., Imawaka, M., Ueda, K., Ohtsuka, H., Sakai, K., Aihara, T., Kato, K., Sugimoto, M., Ueno, S., Nishizawa, Y., Aguirre, G.D., Miyadera, K. :|
|A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. PLoS One 10:e0137072, 2015. Pubmed reference: 26368928. DOI: 10.1371/journal.pone.0137072.|
- Created by Frank Nicholas on 20 Jan 2016
- Changed by Frank Nicholas on 20 Jan 2016