Strain Detail Sheet

Strain Name:
C57BL/6J-Mitfmi-enu22(398)Is/Mmmh
Stock Number:
065553-MU
Citation ID:
RRID:MMRRC_065553-MU
Other Names:
Mitf mi-enu22(398)

Strain Information

Gene Details

Mitfmi-enu22(398)
Name: melanogenesis associated transcription factor; microphthalmia enu 22(398)
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 6
Alteration at locus: Chemically Induced
Mitf
Name: melanogenesis associated transcription factor
Synonyms: bHLHe32, Gsfbcc2, wh, BCC2, mi
Type: Gene
Species: Mouse
Chromosome: 6
Alteration at locus: Chemically Induced
NCBI: 17342
HGNC: HGNC:7105
Homologene: 4892
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Genetic Alterations
The original publication (PMID:19635938) reported this variant in a shorter isoform (NM_008601.3) as c.76C>T/p.Gln26*, which predicted truncation at glutamine 26 exon 2A of the Mitf gene (see LUMC Mutalyzer analysis here). Characterization of splicing of the Mitf gene in normal andMitf mi-enu22(398) mutant mice using primers extending from exon 1B to exon 9 shows a major 997-bp full-length band in wild-type mice, whereas in the Mitf mi-enu22(398) homozygotes a major 685-bp product is made, which lacks exons 2A, 2B, and 3.

HGVS nomenclature (converted to the longest transcript):
Genotype Determination
ES Cell Line
Not applicable

Strain Description

Phenotype
The mice have large white spots in otherwise pigmented coat.
Mammalian Phenotype Terms
Allelic Composition: (Genetic Background: )
MeSH Terms
  • Alternative Splicing
  • Animals
  • Binding Sites/genetics
  • Chromosomes, Artificial, Bacterial/genetics
  • Exons/genetics
  • Eye/growth & development
  • Eye/metabolism
  • Female
  • Gene Deletion
  • Hair Color/genetics
  • Male
  • Melanocytes/metabolism
  • Mice
  • Mice, Transgenic
  • Microphthalmia-Associated Transcription Factor/genetics
  • Microphthalmia-Associated Transcription Factor/metabolism
  • Mutation
  • Myocardium/metabolism
  • Phenotype
  • Phosphorylation
  • Serine/genetics
  • Serine/metabolism
  • Skin/growth & development
  • Skin/metabolism
  • Transgenes/genetics
Strain Development
This mutant strain was generated in an ENU mutagenesis screen performed at the Novartis Functional Genomics Institute in San Diego. It was shipped to Dr. Eirikur Steingrímsson's laboratory at the University of Iceland and has been maintained there since 2006 by sib-pair matings.
Suggested Control Mice
C57BL/6J

MMRRC Genetic QC

MMRRC Genetic QC Summary
The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact mmrrc@missouri.edu. Older strains may not have this information.

Research Applications

  • Developmental Biology
  • Models for Human Disease

Strain Origin

Donor
Eirikur Steingrimsson, Ph.D., University of Iceland.
Primary Reference

Bauer GL, Praetorius C, Bergsteinsdóttir K, Hallsson JH, Gísladóttir BK,Schepsky A, Swing DA, O'Sullivan TN, Arnheiter H, Bismuth K, Debbache J, FletcherC, Warming S, Copeland NG, Jenkins NA, Steingrímsson E. The role of MITFphosphorylation sites during coat color and eye development in mice analyzed bybacterial artificial chromosome transgene rescue. Genetics. 2009Oct;183(2):581-94. doi: 10.1534/genetics.109.103945. Epub 2009 Jul 27. (Medline PMID: 19635938)

Colony and Husbandry Information

Health Status Report

Colony Surveillance Program and Current Health Reports

Mice recovered from a cryo-archive will have health surveillance performed on recipient females. Health reports will be provided prior to shipment. If you require additional health status information, please email mmrrc@missouri.edu.

Appearance

Coat Color
White spots on otherwise black coat
Eye
Black

Breeding

MMRRC Breeding System
Sib-mating
Generation
F20+
Overall Breeding Performance
Good

Reproductive Statistics

Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: N/A N/A
Age Reproductive Decline: 10 to 12 months 10 to 12 months
Average litter size
7 to 9
Recommended wean age
3 Weeks
Average Pups Weaned
7 to 9

Order Request Information

Availability Level

Limited quantities of breeder mice (recovered litter) are available from a cryoarchive; recovered litter usually available to ship in 3 to 4 months.

Cryopreserved material may be available upon request, please inquire to mmrrc@missouri.edu for more information.

Conditions of Distribution

The donor or their institution limits the distribution to non-profit institutions only.

Distribution of this strain requires submission of the MMRRC Conditions of Use (COU). A link to the COU web form will be provided via email after an order has been placed; the form should be completed then or the email forwarded to your institutional official for completion.

Fees

- Products for this strain are Not Yet Available for Ordering
- If you register interest in this strain, you will be notified when it becomes available for ordering.
To request material from the MMRRC: Please fill out our on-line request form (accessible from the catalog search results page, or click the Request this Strain button in the fees section). If you have questions or need assistance completing this form, you may call Customer Service at (800) 910-2291 (in USA or Canada) or (530) 757-5710 (international calls). Before you call, please have with you: the MMRRC item number, quantity needed, Bill-to and Ship-to contact information.