Strain Name:
B6.Cg-MitfMi-b/Mitfmi-sp/Mmmh
Stock Number:
000168-MU
Citation ID:
RRID:MMRRC_000168-MU
Other Names:
microphthalmia transcription factor
Major Collection:

Strain Information

MitfMi-b
Name: melanogenesis associated transcription factor; microphthalmia brownish
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, wh, Gsfbcc2, BCC2, mi
Type: Gene
Species: Mouse
Chromosome: 6
Alteration at locus: Spontaneous Mutation
NCBI: 17342
HGNC: HGNC:7105
Homologene: 4892
Genetic Alterations
G-to-A transition leading to a Gly244Glu substitution in the encoded protein. This amino acid is in helix 2 of the HLH dimerization domain.

HGVS nomenclature:

Note: The original description of this variant referred to amino acid position 244. Per HGVS rules, the variant details above utilize the longest transcript of the Mitf gene.

Genotype Determination
Phenotype
Description of White Spotting mutants

Homozygous mice are white and have severe micropthalmia. Heterozygous mice are steel gray. Black wildtype offspring do not carry the mutant allele.
Mammalian Phenotype Terms
Allelic Composition: MitfMi-b/MitfMi-b (Genetic Background: involves: 101/Rl * C3H/Rl )

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

Allelic Composition: MitfMi-b/MitfMi-wh (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
  • Alternative Splicing
  • Animals
  • Base Sequence
  • DNA-Binding Proteins/genetics
  • Exons
  • Female
  • Genes, Overlapping
  • Male
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Microphthalmia-Associated Transcription Factor
  • Molecular Sequence Data
  • Mutagenesis
  • Transcription Factors/genetics
  • Transcription, Genetic
  • Eye Abnormalities
  • Genetic Complementation Test
  • Heterozygote
  • Mutation
  • Cloning, Molecular
  • DNA-Binding Proteins/chemistry
  • DNA-Binding Proteins/metabolism
  • Dimerization
  • Electrophoresis, Polyacrylamide Gel
  • Harderian Gland/cytology
  • Helix-Loop-Helix Motifs
  • Histocytochemistry
  • Homozygote
  • Leucine Zippers/genetics
  • Melanocytes
  • Models, Molecular
  • Phenotype
  • Point Mutation/genetics
  • Protein Conformation
  • Retina/cytology
  • Retina/metabolism
  • Retina/pathology
  • Skin/cytology
Strain Development
Spontaneous mutation that occurred in an offspring of a (101xC3H) F1 male x T (multiple recessive) female at Harwell MRC radiobiology unit. This mutation was backcrossed for 10+ generations onto the C57BL/6-Mitfmi-sp mouse strain.
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.
  • Eye Development
  • Pigmentation
Donor
Lynn Lamoreux, Ph.D., Texas Agricultural and Mechanical University.
Primary Reference

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)

Steingrimsson E; Nii A; Fisher DE; Ferre-D'Amare AR; McCormick RJ; Russell LB; Burley SK; Ward JM; Jenkins NA; Copeland NG. The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization.EMBO J. 1996 Nov 15;15(22):6280-9. (Medline PMID: 8947051)

Colony and Husbandry Information

Diet should contain 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
Homozygous mice are white; Heterozygous mice are steel gray.
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: Homozygous mice have extremely poor breeding performance and should not be used for breeding. Black wildtype offspring do not carry the gene of interest and should not be used for mating. Heterozygous mice are backcrossed to (C57BL/6-Mitfmi-sp) every generation. Heterozygotes are sib mated to produce homozygotes when needed.
Generation
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
000168-MU-EMBRYO Cryo-preserved embryos $1,038.00 / $2,621.00
Non-Profit / For-Profit
Aliquot Approximate quantity2 : 20-40 embryos / aliquot
000168-MU-SPERM Cryo-preserved spermatozoa $437.00 / $817.00
Non-Profit / For-Profit
Aliquot Approximate quantity3
000168-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.