Strain Name:
B6.Cg-Mitfmi-ce/Mitfmi-sp/Mmmh
Stock Number:
000161-MU
Citation ID:
RRID:MMRRC_000161-MU
Other Names:
microphthalmia transcription factor
Major Collection:

Strain Information

Mitfmi-ce
Name: melanogenesis associated transcription factor; cloudy-eye
Synonyms: mice, ce, MITFce, cloudy eyed
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 6
Alteration at locus: Spontaneous Mutation
Mitfmi-sp
Name: melanogenesis associated transcription factor; microphthalmia spotted
Synonyms: sp, MITFsp
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 6
Alteration at locus: Spontaneous Mutation
Mitf
Name: melanogenesis associated transcription factor
Synonyms: bHLHe32, Gsfbcc2, wh, BCC2, mi
Type: Gene
Species: Mouse
Chromosome: 6
Alteration at locus: Spontaneous Mutation
NCBI: 17342
HGNC: HGNC:7105
Homologene: 4892
Genetic Alterations
C-to-T transition at coding position 1108, predicting the conversion of arginine-370 into a premature stop codon. The molecular basis for this mutation is the same as that for Mitfmi-di, but this mutation arose independently.

HGVS nomenclature:
Note: This variant was originally reported as "C-to-T transition at bp 916 that introduces a stop codon after amino acid 262"
Genotype Determination
Phenotype
Description of White Spotting mutants

Heterozygous mice are evenly spotted with black and white. Homozygous mice are solid white and have severe micropthalmia.
Mammalian Phenotype Terms
Allelic Composition: Mitfmi-ce/Mitfmi-ce (Genetic Background: DBA/2N )

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/genetics
  • Mice, Inbred DBA
  • Eye Abnormalities
  • Genetic Complementation Test
  • Heterozygote
  • Carboxypeptidases/biosynthesis
  • Carboxypeptidases/genetics
  • Carboxypeptidases A
  • Cell Differentiation
  • Cytotoxicity, Immunologic
  • DNA/metabolism
  • DNA-Binding Proteins/deficiency
  • DNA-Binding Proteins/physiology
  • Enzyme Induction
  • Granzymes
  • Leucine Zippers/genetics
  • Leucine Zippers/physiology
  • Mast Cells/cytology
  • Mast Cells/immunology
  • Mast Cells/metabolism
  • Mice, Knockout
  • Promoter Regions, Genetic
  • Protein Binding
  • Proto-Oncogene Proteins c-kit/genetics
  • RNA, Messenger/biosynthesis
  • Serine Endopeptidases/biosynthesis
  • Serine Endopeptidases/genetics
  • Serotonin/biosynthesis
  • Skin/metabolism
  • Skin/pathology
  • Structure-Activity Relationship
  • Transcription, Genetic/physiology
  • Transfection
  • Tryptases
  • Tryptophan Hydroxylase/genetics
Strain Development
Heterozygotes backcrossed to C57BL/6-Mitfmi-sp every generation.
Suggested Control Mice
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.
  • Pigmentation
  • Eye development
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, 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)
  • Zimring DC; Lamoreux ML; Millichamp NJ; Skow LC, Microphthalmia cloudy-eye (mi(ce)): a new murine allele. J. Heredity. 87(4):334-8, 1996 Jul-Aug. (Medline PMID: 8776879)
  • 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)
  • Morii E, Ogihara H, Kim DK, Ito A, Oboki K, Lee YM, Jippo T, Nomura S, Maeyama K, Lamoreux ML, Kitamura Y. Importance of leucine zipper domain of mi transcription factor (MITF) for differentiation of mast cells demonstrated using mi(ce)/mi(ce) mutant mice of which MITF lacks the zipper domain. Blood. 2001 Apr 1;97(7):2038-44. (Medline PMID: 11264169)

Colony and Husbandry Information

Feed diet of 9 % fat.

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.
Coat Color
Heterozygous: spotted black and white; Homozygous: solid white
MMRRC Breeding System
Backcross
Breeding Scheme(s)
  • Heterozygous Female x C57BL/6-Mitfmi-sp Male
  • C57BL/6-Mitfmi-sp Female x Heterozygous Male
  • Heterozygous Female x Heterozygous Male (to obtain Homozygous mice)
  • Note:
    Fertility of Homozygous mice is poor. In all matings, resulting black mice do not carry the mutant allele of interest and it is recommended that only the known mi-sp mouse line be used for backcrosses.
Generation
Unknown
Overall Breeding Performance
Good (Heterozygotes)
Bred to Homozygosity
No
Average litter size
Unknown
Recommended wean age
4 weeks

Order Request Information

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.

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.

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
000161-MU-EMBRYO Cryo-preserved embryos $1,038.00 / $2,621.00
Non-Profit / For-Profit
Aliquot Approximate quantity2 : 20-40 embryos / aliquot
000161-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
000161-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.