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Dog DNA testing illustration

Progressive Retinal Atrophy (BBS2-PRA) – Shetland Sheepdog

Code: H866

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision.

General information

Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This variant of PRA, known as Bardet-Biedl Syndrome Type 2 (BBS2-PRA), occurs in the Shetland Sheepdog. The variant is caused by a recessive mutation to the gene BBS2.

Specifications

Breeds

Shetland Sheepdog
Gene

BBS2
Chromosome

2
Mutation

c.1222G>C
Organ

Sensory organs
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

BBS2-PRA

Clinical features

Affected dogs present in adulthood (approximately between the ages of 8 and 10 years) with a progressive decline in vision, starting with night vision and followed by daylight vision. Additionally, the disorder can cause unusual physical features such as an upturned nose, a wavy coat and dental abnormalities such as loose teeth.

References

Pubmed ID: 34828377

Year published: 2021

Omia ID: 2484

Omia variant ID:

Turnaround information

  • 15 working days