Description: The mutation causing PRA-cord2 in standard wire-haired dachshunds is sometimes mentioned as crd2-PRA. Cord-PRA is one form of progressive retinal atrophy (PRA). CORD (cone-rod dystrophy) is a degenerative retinal disease occurring in humans and dogs. First, degeneration of the cone and then the rod is recorded. The first clinical symptoms of cord2-PRA in wire-haired dachshunds occur between month 10 and year 3. Complete retinal atrophy occurs approximately in the 6th year (Ropstad et al. 2007a) when CORD2 manifests itself as daily blindness. Clinical visual examination (ERG) at 5 weeks already reveals cone damage in affected individuals.
Inheritance: autosomal recessive
Mutation: deletion of 180 bp in exon 5/intron 5 in NPHP4 gene (location 62,913,591– 62,913,770)
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Standard wire-haired dachshund