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Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds
Author(s) -
Palánová Anna,
Schröffelová Daniela,
Přibáňová Michaela,
Dvořáková Věra,
Stratil Antonín
Publication year - 2014
Publication title -
veterinary ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.594
H-Index - 50
eISSN - 1463-5224
pISSN - 1463-5216
DOI - 10.1111/vop.12092
Subject(s) - nephronophthisis , genetics , gene , biology , mutation , phenotype
Cone‐rod dystrophy is a progressive inherited retinal degenerative disorder that occurs in humans and dogs. The deletion in the nephronophthisis 4 ( NPHP 4 ) 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 NPHP 4 (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.