Affected genes: KIF3B
Inheritance: Autosomal recessive
Mutation: Felis_catus_9.0 A3 g.26784019C>T c.1000G>A
OMIA link: 002267-9685
Breeds appropriate for testing: Bengal
Symptoms:
Cats affected by this progressive retinal atrophy show a rapid loss of their photoreceptors, causing progressive blindness. The loss of retinal cells begins around 7 weeks of age and progresses to complete loss by 1 to 2 years of age.
Reference:
Cogné, B., Latypova, X., Senaratne, L.D.S., Martin, L., Koboldt, D.C., Kellaris, G., Fievet, L., Le Meur, G., Caldari, D., Debray, D., Nizon, M., Frengen, E., Bowne, S.J.: Mutations in the kinesin-2 motor KIF3B cause an autosomal-dominant ciliopathy. Am J Hum Genet 106:893-904, 2020. PubMed reference: 32386558. DOI: 10.1016/j.ajhg.2020.04.005.
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C$65.00Price
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