OMIA 001401-10036 : Waardenburg syndrome, type 2A in Mesocricetus auratus

See the equivalent entry at NCBI

In other species: pig

Possible human homologue (MIM number): 193510

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key mutation known: yes

Year key mutation 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.

Associated gene:

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

Variants

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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

Reference


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.

Edit History


  • 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