Strain Data Sheet

RBRC01896

Strain Information

Image
BRC No.RBRC01896
TypeSpontaneous Mutation
SpeciesMus musculus
Strain nameB6;C3-Mitf<mi-bw>
Former Common nameB6; C3;B6-Mitf-mibw/mibw
H-2 Haplotype
ES Cell line
Background strain
Appearance
Strain development
Strain descriptionThe 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 maintenanceSibling Mating (Homozygote x Homozygote)
References
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.
Yajima I, Sato S, Kimura T, Yasumoto K, Shibahara S, Goding C R, Yamamoto H
Hum. Mol. Genet., 8, 1431-1441 (1999). 10400990

Health Report

Examination Date / Room / Rack

Gene

Gene SymbolGene NameChr.Allele SymbolAllele NameCommon NamesPromoterDiseases Related to This Gene
Mitf
MGI:104554		melanogenesis associated transcription factor6Mitf<mi-bw>
MGI:1856089		black eyed white
  • coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness(MedGEN)

  • melanoma, cutaneous malignant, susceptibility to, 8(MedGEN)

  • Tietz syndrome(DisGeNET, MedGEN)
    • more 2 Diseases
  • Waardenburg syndrome type 2(DisGeNET)

  • Waardenburg syndrome type 2A(MedGEN)

    • Phenotype

    Annotation by Mammalian phenotyhpe ontology
  • abnormal hearing physiology(MP:0001963)

  • abnormal melanoblast migration(MP:0009784)

  • abnormal melanoblast morphology(MP:0009783)

  • abnormal stria vascularis morphology(MP:0000048)

  • absent coat pigmentation(MP:0005171)
    • more 5 phenotypes
  • absent hair follicle melanin granules(MP:0000394)

  • absent strial intermediate cells(MP:0006010)

  • decreased melanocyte number(MP:0012023)

  • increased or absent threshold for auditory brainstem response(MP:0011967)

  • thin stria vascularis(MP:0004364)
    • Detailed phenotype data

    Ordering Information

    Donor DNA
    Research applicationDermatology Research
    Mouse Models for Human Disease
    Specific Term and ConditionsIn 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).
    DepositorHiroaki Yamamoto (Tohoku University)
    Strain Statusan icon for Frozen embryosFrozen embryos
    Strain AvailabilityRecovered litters from cryopreserved embryos (2 to 4 months)
    Additional Info.Necessary documents for ordering:
    1. Order form (Japanese / English)
    2. Category I MTA: MTA for distribution with RIKEN BRC (Japanese / English)

    Mouse of the Month Dec 2006

    BRC mice in Publications

    Schuler P, Contassot E, Irla M, Hugues S, Preynat-Seauve O, Beermann F, Donda A, French LE, Huard B.
    Direct presentation of a melanocyte-associated antigen in peripheral lymph nodes induces cytotoxic CD8+ T cells.
    Cancer Res 68(20) 8410-8(2008) 18922914