OMIA 001427-9685 : Gangliosidosis, GM2, GM2A deficiency in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|GM2A||GM2 ganglioside activator||Felis catus||A1||NC_018723.3 (198127602..198113084)||GM2A||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Gangliosidosis, GM2, GM2A deficiency||GM2A||deletion, small (<=20)||c.516_519delGGTC||p.V173Sfs*17||2005||16200419|
|2005||Martin, DR., Cox, NR., Morrison, NE., Kennamer, DM., Peck, SL., Dodson, AN., Gentry, AS., Griffin, B., Rolsma, MD., Baker, HJ. :|
|Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. Acta Neuropathol (Berl) 110:443-50, 2005. Pubmed reference: 16200419. DOI: 10.1007/s00401-005-1040-6.|
- Created by Frank Nicholas on 26 Nov 2007
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 26 Nov 2012
- Changed by Tosso Leeb on 29 May 2013