Possibly relevant human trait(s) and/or gene(s) (MIM number): 262300

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)

Species-specific symbol: cd^GSPT

Mapping: Sidjanin et al. (2002) conducted a genome scan with microsatellites, and identified one microsatellite on CFA29, namely C29.002, completely linked to the disorder locus, with recombination fraction = 0 at a LOD score of 24.68.

Molecular basis: A causative mutation for this disorder was identified via a comparative positional cloning approach. First, as described in the Mapping section, a genome scan showed that the disorder locus is in a region of chromosome CFA29. The homologous region of the human genome (HSA8q21-22) contains the gene for cyclic nucleotide-gated channel β-subunit (CNBG3), mutations in which cause a very similar disorder in humans (see the OMIM entry above). Sequencing of this strong comparative positional candidate gene enabled the same authors to report that this disorder in German Short-hair Pointers is due to a "missense mutation in exon 6 (D262N, nucleotide 784) within a conserved region of" the CNGB3 gene, which encodes cyclic nucleotide-gated channel beta-subunit.

Breed: German Shorthair Pointer.

Associated gene: