OMIA 001401-10036 : Waardenburg syndrome, type 2A in Mesocricetus auratus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||microphthalmia-associated transcription factor||Mesocricetus auratus||-||no genomic information (-..-)||MITF||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|
|Waardenburg syndrome, type 2A||MITF||splicing||A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination.||2003||12871913|
|2003||Graw, J., Pretsch, W., Löster, J. :|
|Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II. Genetics 164:1035-41, 2003. Pubmed reference: 12871913.|
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 24 Oct 2011
- Changed by Frank Nicholas on 08 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012