Mitfmi-bw mutant mouse

RIKEN BRC December 2006
Mouse of the Month
Mitfmi-bw mutant mouse
A model for Waardenburg syndrome type 2

BRC No. 01262_C3.Cg-Mitfmi-bw
BRC No. 01896_B6;C3-Mitfmi-bw
Targeted mutation : Mitf, Chr. 6
Gene Symbol : Mitf

Research Application : Dermatology, Neurobiology


Mitfmi-bw mutant mouse (homozygote)



Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities in human. Approximately 20% of WS2 cases are associated with mutations in the gene encoding the microphthalmia-associated transcription factor (Mitf). Mitf plays a critical role in the development of melanocytes, mast cells, osteoclasts and pigmented epithelium. The Mitfmi-bw allele is one of the oldest known among white spotting mutations, and homozygous mice for the Mitfmi-bw mutation display a white coat with black eyes (figure). In this allele, a L1 retrotransposable element was inserted into intron 3. This strain is useful as an animal model for Waardenburg syndrome type 2 (WS2).
Depositor :  Dr. Hiroaki Yamamoto
(Tohoku University)
Reference :  Yajima I, Sato S, Kimura T, Yasumoto K, Shibahara S, Goding CR, Yamamoto H.
An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.
Hum. Mol. Genet. 1999; 8(8):1431-1441



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