Store


Cone Degeneration

$75.00 (RRP)

$45.00 (MEMBER PRICE)

Test Overview:

Cone degeneration (cd) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German Shorthaired Pointer breeds. It is phenotypically similar to human achromatopsia, a heterogeneous autosomal recessive disorder associated with three distinct loci. Both the canine disease and its human counterparts are characterized by day-blindness and absence of retinal cone function in adults.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

CNGB3 on Chromosome 29

Variant Detected:

Base Substitution of G>A

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Human Molecular Genetics, Volume 11, Issue 16, 1 August 2002, Pages 1823–1833, https://doi.org/10.1093/hmg/11.16.1823

Associated Breed(s):

Alaskan Malamute, Australian Shepherd, Labradoodle , Miniature American Shepherd, Mixed Breed, Siberian Husky,
##parent-placeholder-da39a3ee5e6b4b0d3255bfef95601890afd80709##