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Gall Bladder Mucocele Formation (Shetland Sheepdog Type)

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Test Overview:

Due to the proposed but not definitive genetic risk, genetic testing for the ABCB4 mutation is available, but breeders should use caution interpreting results. Dogs confirmed to be heterozygous for the mutation may still live unaffected or mildly affected lives, while some homozygous/clear dogs can also develop GBM. Ideally, avoid breeding dogs known to carry the ABCB4 mutation, but also consider the breed's overall genetic diversity and consult with geneticists or breed clubs for a balanced breeding approach

Category:

Digestive system / Gastrointestinal - Associated with the organs and structures of the digestive system

Gene:

ABCB4

Variant Detected:

c.1583_1584insG or c.1660_1661insG in exon 12

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the ABCB4 gene will reliably determine if a dog is a genetic carrier of Gall Bladder Mucocele Formation (Shetland Sheepdog type).

Research Citation(s):

Comp Hepatol. 2010; 9: 6.
Vet Radiol Ultrasound. 2000;41:261–271. doi: 10.1111/j.1740-8261.2000.tb01489.x

Associated Breed(s):

Mixed Breed, Shetland Sheepdog,

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