Literature DB >> 23998563

Analysis of a deletion in the nephronophthisis 4 gene in different dog breeds.

Anna Palánová1, Daniela Schröffelová, Michaela Přibáňová, Věra Dvořáková, Antonín Stratil.   

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.
© 2013 American College of Veterinary Ophthalmologists.

Entities:  

Keywords:  Dachshund; blindness; cone; dystrophy; nephronophthisis; rod

Mesh:

Year:  2013        PMID: 23998563     DOI: 10.1111/vop.12092

Source DB:  PubMed          Journal:  Vet Ophthalmol        ISSN: 1463-5216            Impact factor:   1.644


  1 in total

1.  Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom.

Authors:  Saija Ahonen; Ian Seath; Clare Rusbridge; Susan Holt; Gill Key; Travis Wang; Peixiang Wang; Berge A Minassian
Journal:  Canine Genet Epidemiol       Date:  2018-03-27
  1 in total

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