title: Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds.
abstract: Cone-rod dystrophy is a progressive inherited retinal degenerative disorder that occurs in humans and dogs. The deletion in the nephronophthisis 4 (NPHP4) gene was established as a causative mutation in standard wire-haired Dachshunds. We analyzed all varieties of Dachshunds from the Czech Republic and five other dog breeds and found that the deletion in the NPHP4 (in heterozygous state) is present not only in standard-, but also in miniature wire-haired Dachshunds, but not in other varieties of Dachshunds or in other breeds.
authors.affiliation: Institute of Animal Physiology and Genetics, v.v.i., Academy of Sciences of the Czech Republic, 277 21, Liběchov, Czech Republic.
authors.forename: Anna
authors.initials: A
authors.lastname: Palánová
authors.forename: Daniela
authors.initials: D
authors.lastname: Schröffelová
authors.forename: Michaela
authors.initials: M
authors.lastname: Přibáňová
authors.forename: Věra
authors.initials: V
authors.lastname: Dvořáková
authors.forename: Antonín
authors.initials: A
authors.lastname: Stratil
mesh_terms: D000818:Animals; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D017353:Gene Deletion; D005786:Gene Expression Regulation / Q000502:physiology; D020022:Genetic Predisposition to Disease; D052177:Kidney Diseases, Cystic / Q000235:genetics* / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000662:veterinary*
keywords: Dachshund; blindness; cone; dystrophy; nephronophthisis; rod