Strain Name:
B6.Cg-Mitfmi-Or/Mitfmi-sp/Mmmh
Stock Number:
000167-MU
Citation ID:
RRID:MMRRC_000167-MU
Other Names:
microphthalmia transcription factor
Major Collection:

Strain Information

MitfMi-Or
Name: melanogenesis associated transcription factor; microphthalmia Oak Ridge
Synonyms: Mior
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
Genetic Alterations
G-to-A transition at nucleotide 968 which leads to an arginine-to-lysine substitution at the corresponding amino acid in the encoded protein. This mutation is in the basic region of the protein.

HGVS nomenclature:

Note: The original description of this variant referred to amino acid position 216 and nucleotide 776. Per HGVS rules, the variant details above utilize the longest transcript of the Mitf gene.

Genotype Determination
Phenotype
Description of White Spotting mutantss

Homozygous mice are completely white (no flecks of dark) and have severe micropthalmia. Their eyes are small or absent, and incisors may fail to erupt. Heterozygous mice are almost completely white but have a few flecks of dark color.
Mammalian Phenotype Terms
Allelic Composition: MitfMi-Or/MitfMi-Or (Genetic Background: involves: 101/Rl * C3H/Rl )

Allelic Composition: MitfMi-Or/Mitf+ (Genetic Background: involves: 101/Rl * C3H/Rl )

Allelic Composition: MitfMi-b/MitfMi-Or (Genetic Background: involves: 101/Rl * C3H/Rl )

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
Mutation appeared among offspring of an irradiated male, maintained by backcrossing to C57BL/6J-Mitfmi-sp.
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
Dr. M. L. Lamoreux, Texas A&M 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, et al. 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)
  • 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

Diet should contain 9% fat. Homozygous mice may be fertile, but reproduction is extremely poor and the colony cannot be maintained in the homozygous state.

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
Homozygous mice are all white. Heterzygous mice are white with dark flecks.
MMRRC Breeding System
Backcross
Breeding Scheme(s)
  • Heterozygous Female x C57BL/6J-Mitfmi-sp Male
  • C57BL/6J-Mitfmi-sp Female x Heterozygous Male
  • Heterozygous Female x Heterozygous Male (for Homozygous mice)
Generation
N10+
Overall Breeding Performance
Good (Heterozygous Mice)
Viability and Fertility: Female Male Comments
Homozygotes are viable: Unknown Unknown
Homozygotes are fertile: Unknown Unknown
Heterozygotes are fertile: Unknown Unknown
Age Reproductive Decline: Unknown Unknown
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
000167-MU-EMBRYO Cryo-preserved embryos $1,038.00 / $2,621.00
Non-Profit / For-Profit
Aliquot Approximate quantity2 : 20-40 embryos / aliquot
000167-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
000167-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.