RBRC01896, B6;C3-Mitf

RBRC No. RBRC01896
Type Spontaneous Mutation
Species Mus musculus
Strain name B6;C3-Mitfmi-bw
Former Common name B6; C3;B6-Mitf-mibw/mibw
H-2 Haplotype No Data
Background strain No Data
Appearance
1 Appearance No Data
Genotype No Data
Strain description The Mitf, microphthalmia-associated transcription factor plays a critical role in the development of melanocytes, mast cells, osteoclasts and pigmented epithelium. Homozygous mice for the Mitf<mi-bw> mutation display a white coat with black eyes. In this allele, a L1 element was inserted into intron 3. This strain is useful as an animal model for Waardenburg syndrome type 2 (WS2).
Colony maintenance Sibling Mating (Homozygote x Homozygote)
Health Report
Gene Details
Promoter No Data
1 Symbol Mitf
Symbol name microphthalmia-associated transcription factor
Chromosome 6
Common name mi, wh
Symbol description No Data
References Hum Mol Genet. 1999 Aug;8(8):1431-41.

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.
Research applications Dermatology Research,
Mouse Models for Human Disease
Specific Term and Conditions The following terms and conditions will be requested by the DEPOSITOR.
In publishing the research results obtained by use of the BIOLOGICAL RESOURCE, a citation of the following literature(s) designated by the DEPOSITOR is requested.
Hum. Mol. Genet., 8, 1431-1441 (1999).
Additional information
1 Mouse of the Month Dec 2006
Depositor Yamamoto, Hiroaki (Nagahama Institute of Bio-Science and Techology) Yamamoto, Hiroaki
Strain Status /
Availability
(Expected delivery)


Frozen
Cryopreserved embryos : Within 1 month
Recovered litters from cryopreserved embryos : 2-4 months