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Strain Detail Sheet

Strain Name:
B6.Cg-Mitfmi-bw/Mitfmi-sp/Mmmh
Stock Number:
000165-MU
Citation ID:
RRID:MMRRC_000165-MU
Other Names:
microphthalmia transcription factor
Major Collection:
Mammalian Pigmentation

Strain Information

Gene Details

Mitfmi-bw
Name: melanogenesis associated transcription factor; black eyed white
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 6
Alteration at locus: Spontaneous Mutation
Mitfmi-sp
Name: melanogenesis associated transcription factor; microphthalmia spotted
Synonyms: MITFsp, sp
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 6
Alteration at locus: Spontaneous Mutation
Mitf
Name: melanogenesis associated transcription factor
Synonyms: mi, wh, BCC2, bHLHe32, Gsfbcc2
Type: Gene
Species: Mouse
Chromosome: 6
Alteration at locus: Spontaneous Mutation
NCBI: 17342
HGNC: HGNC:7105
Homologene: 4892

Additional Resources
IMPC
Google
Entrez
PubMed
IMSR
Gene Ontology
BioGPS
Gene Cloud
IGTC
Mouse Phenome DB
Mouse Mine
KOMP Phenotyping
Monarch
GeneCards
ClinGen
Genetic Alterations
In this allele, a 7.2-kb novel L1 element was inserted into intron 3. This insertion reduces the amount of mRNAs for two splicing isoforms and abolishes the expression of a third isoform.
Genotype Determination

Strain Description

Phenotype
Description of White Spotting mutants

Homozygous mice are white. Heterozygous mice are largely black with a fairly large white belly spot. Wild-type mice are black and if they have a white belly spot, it is very small. Black mice without the large belly spot do not carry the mutant allele of interest. In addition to pigmentation defects, mice mutant at the target locus are known to have defects of the eyes, mast cells, reproductive system, peristalsis, osteoclasts (giving rise to the absence of teeth), and the inner ear. This mutant allele has not been studied with regard to these defects, but the eyes and teeth appear normal. Though no pigmentation is observed in the skin and hair of the homozygote, pigment cells have been found in the skin of newborns.
Mammalian Phenotype Terms
Allelic Composition: Mitfmi-bw/Mitfmi-bw (Genetic Background: C3H )
Allelic Composition: Mitfmi-sp/Mitfmi-sp (Genetic Background: B6.Cg-MitfMi-wh/Mitfmi-sp/J )
Allelic Composition: MitfMi-wh/Mitfmi-sp (Genetic Background: B6.Cg-MitfMi-wh/Mitfmi-sp/J )
Allelic Composition: MitfMi/Mitfmi-sp (Genetic Background: B6.Cg-MitfMi/Mitfmi-sp )
Allelic Composition: MitfMi/Mitfmi-sp (Genetic Background: involves: C57BL/6J )
MeSH Terms
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • DNA-Binding Proteins/chemistry
  • DNA-Binding Proteins/genetics
  • Deafness/genetics
  • Disease Models, Animal
  • Eye Color/genetics
  • Gene Expression Regulation, Developmental
  • Genes, Dominant
  • Hair Color/genetics
  • Helix-Loop-Helix Motifs
  • Humans
  • Leucine Zippers
  • Mast Cells/pathology
  • Melanocytes/pathology
  • Mice
  • Mice, Inbred Strains
  • Mice, Mutant Strains
  • Microphthalmia-Associated Transcription Factor
  • Microphthalmos/genetics
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation
  • Neural Crest/pathology
  • Osteopetrosis/genetics
  • Phenotype
  • Protein Conformation
  • RNA Splicing
  • Tooth Abnormalities/genetics
  • Transcription Factors
  • Waardenburg Syndrome/classification
  • Waardenburg Syndrome/genetics
  • Alternative Splicing
  • Exons
  • Female
  • Genes, Overlapping
  • Male
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mutagenesis
  • Transcription Factors/genetics
  • Transcription, Genetic
  • Eye Abnormalities
  • Genetic Complementation Test
  • Heterozygote
Strain Development
Heterozygous mice are backcrossed to C57BL/6-Mitfmi-sp every generation. Heterozygotes are sib mated to produce homozygotes when needed.
Suggested Control Mice

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

  • Pigmentation
  • Eye development
  • Inner ear development

Strain Origin

Donor
Lynn Lamoreux, Ph.D., Texas Agricultural and Mechanical University.
Primary Reference

Steingrimsson E; Moore KJ; Lamoreux ML; Ferre-D'Amare AR; Burley SK; Zimring DC; Skow LC; Hodgkinson CA; Arnheiter H; Copeland NG; Jenkins NA, Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences [see comments], Nat Genet 1994 Nov;8(3):256-63. (Medline PMID: 7874168)

Hallsson JH, Favor J, Hodgkinson C, Glaser T, Lamoreux ML, Magnusdottir R, Gunnarsson GJ, Sweet HO, Copeland NG, Jenkins NA, Steingrimsson E. Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. Genetics. 2000 May;155(1):291-300. (Medline PMID: 10790403)

Steingrimsson E, Arnheiter H, Hallsson JH, Lamoreux ML, Copeland NG, Jenkins NA. Interallelic complementation at the mouse mitf locus. Genetics. 2003 Jan;163(1):267-76. (Medline PMID: 12586714)

Colony and Husbandry Information

Special Considerations

Diet should contain 9% fat. Homozygous mice have extremely poor breeding performance and should not be used for breeding.

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
Homozygous: white; Heterozygous: mostly black with large white belly spot.

Breeding

MMRRC Breeding System
Backcross
Breeding Scheme(s)
  • Heterozygous Female x C57BL/6-Mitfmi-sp Male
  • Heterozygous Female x Heterozygous Male (to obtain Homozygous mice)
Generation
Unknown
Overall Breeding Performance
Good (heterozygous mice)

Reproductive Statistics

Average litter size
Unknown
Recommended wean age
4 weeks

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

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

Additional charges may apply for any special requests. Shipping costs are in addition to the basic distribution/resuscitation fees. Information on shipping costs and any additional charges will be provided by the supplying MMRRC facility.

Click button to Request this one strain. (Use the MMRRC Catalog Search to request more than one strain.)
MMRRC Item # Description Distribution Fee / Unit (US $)
*Shipping & Handling not included*		 Units Notes
000165-MU-EMBRYO Cryo-preserved embryos $1,038.00 / $2,621.00
Non-Profit / For-Profit		 Aliquot Approximate quantity2 : 20-40 embryos / aliquot
000165-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit		 Aliquot Approximate quantity3
000165-MU-RESUS Litter recovered from cryo-archive $2,016.00 / $4,103.00
Non-Profit / For-Profit		 Litter Recovered litter4; additional fees for any special requests.

1 The distribution fee covers the expense of rederiving mice from a live mouse; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

2 An aliquot contains a sufficient number of embryos (in one or more vials or straws and based on the transfer success rate of the MMRRC facility) to transfer into one to three recipients. The MMRRC makes no guarantee concerning embryo transfer success experienced in the recipient investigator's laboratory. Neither gender nor genotype ratios are guaranteed.

3 An aliquot is one straw or vial with sufficient sperm to recover at least one litter of mice, as per provided protocols, when performed at the MMRRC facility. The MMRRC makes no guarantee concerning the success of these procedures when performed outside the MMRRC facilities.

4 The distribution fee covers the expense of resuscitating mice from the cryo-archive; you will receive the resulting litter. The litter will contain at minimum one mutant carrier; the actual number of animals and the gender and genotype ratios will vary. (Typically, multiple breeder pairs can be established from the recovered litter.) Prior to shipment, the MMRRC will provide information about the animals recovered. If you anticipate or find that you need to request specific genotypes, genders or quantities of mice in excess of what is likely from a resuscitated litter, you may discuss available options and pricing with the supplying MMRRC facility.

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.