RBRC01262, C3.Cg-Mitf<mi-bw>/Rbrc

RBRC No. RBRC01262
Type Spontaneous Mutation wks
Species Mus musculus
Strain name C3.Cg-Mitf<mi-bw>/Rbrc
Former Common name Black-eyed white, Mitf<mi-bw> mutant mouse
H-2 Haplotype No Data
Donor strain C3H
Background strain No Data
Appearance
1 Appearance black eyed white
Genotype A/A B/B C/C mi/mi
Strain development The original mutant strain, C3HBSt carrying Mitf<mi-bw> allele was provided by Dr. Walter C. Quevedo Jr., Brown University to Tohoku University. The originals were backcrossed to C57BL/6J strain for 13 times. After several years, they were backcrossed to C3H/He strain because the homozygous mice became difficult to breed.
Strain description C3;B6-Mitf<mi-bw>. 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)
Homozygote shows white coat color with black eyes.
Health Report
Gene Details
Promoter No Data
1 Symbol Mitf
Symbol name microphthalmia-associated transcription factor
Chromosome 6
Common name black eyed white, 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 Genetics 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
BRC mice in Publications
Title Journal
(PMID)
Author
Microphthalmia-associated transcription factor is expressed in projection neurons of the mouse olfactory bulb. Genes Cells (2015).(26522736)
Ohba K, Takeda K, Yamamoto H, Shibahara S.