OMIA 001311-9615 : Photoreceptor dysplasia in Canis lupus familiaris

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific description: Zhang et al. (1998) showed that some Miniature Schnauzers with this disorder are homozygous for a missense mutation in codon 82 (CGA -> GGA) of the gene for phosducin, creating an amino acid substiturion of Arg -> Gly. However, since some affected dogs are heterozygous for this mutation, and other affecteds are homozygous for the normal allele, it remains an open question as to whether this mutation has anything to do with the disorder.

Breed: Miniature Schnauzer.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PDC phosducin Canis lupus familiaris 7 NC_006589.3 (19514225..19498785) PDC Homologene, Ensembl, NCBI gene

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1999 Zhang, Q., Baldwin, V.J., Acland, G.M., Parshall, C.J., Haskel, J., Aguirre, G.D., Ray, K. :
Photoreceptor dysplasia (pd) in miniature schnauzer dogs: Evaluation of candidate genes by molecular genetic analysis Journal of Heredity 90:57-61, 1999. Pubmed reference: 9987905.
1998 Zhang, Q., Acland, G.M., Parshall, C.J., Haskell, J., Ray, K., Aguirre, G.D. :
Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia Gene 215:231-239, 1998. Pubmed reference: 9714819.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 05 Aug 2013