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Gangliosidosis GM1 (Japanese Domestic Type)

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Test Overview:

Test all breeding cats for mutations in the GLB1 gene related to GM1 gangliosidosis, especially if related to Siamese/Korat or Japanese Domestic cats. Do not breed two carriers of the mutation, as 25% of the kittens will be affected and develop this fatal disease. Carrier cats (with one copy of the mutation) should only be bred with cats that test clear (no mutation). Cats affected with GM1 gangliosidosis should never be bred. Inform all breeders and buyers about testing results and the risks to ensure responsible breeding and reduce disease occurrence.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

GLB1

Variant Detected:

c.1448G>C; g.chrC2:157031480

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Martin DR, Rigat BA, Foureman P, Varadarajan GS, Hwang M, Krum BK, Smith BF, Callahan JW, Mahuran DJ, Baker HJ. Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab. 2008 Jun;94(2):212-21. PubMed PMID: 18353697 PubMed: 18353697 Uddin MM, Hossain MA, Rahman MM, Chowdhury MA, Tanimoto T, Yabuki A, Mizukami K, Chang HS, Yamato O. Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. J Vet Med Sci. 2013;75(3):395-7. PubMed PMID: 23123943 PubMed: 23123943

Associated Breed(s):

Korat, Mixed Breed / Unknown Breed (Feline), Siamese,
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