OMIA:001401-10036 : Waardenburg syndrome, type 2A in Mesocricetus auratus (golden hamster)
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2003
Molecular basis: A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination.
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||microphthalmia-associated transcription factor||Mesocricetus auratus||NW_024429266.1 (158718616..158929118)||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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|385||Waardenburg syndrome, type 2A||MITF||splicing||Naturally occurring variant||A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination.||2003||12871913|
Cite this entry
|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