Strain Name:

B6.Cg-MitfMi-wh/J

Stock Number:

000057

Availability:

Repository-Cryopreserved

Description

Strain Information

Type Congenic; Mutant Strain;
Additional information on Genetically Engineered Mutant Mice.
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain DBA x C57BL
GenerationN73

Description
Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalitites of both the cochlear and vestibular portions of the inner ear.

Related Strains

View Strains carrying   MitfMi-wh     (7 strains)

Strains carrying other alleles of Mitf
003046   B6(FVB)-MitfMi-Mee/J
000158   B6.Cg-MitfMi-wh/MitfMi/J
000184   B6.Cg-MitfMi-wh/Mitfmi-rw/J
000157   B6.Cg-MitfMi-wh/Mitfmi-sp/J
001573   B6C3Fe a/a-MitfMi/J
000956   B6CB-Mitfmi-rw/J
002611   C57BL/6J-Mitfmi-bws/J
002134   C57BL/6J-Mitfmi-vit/J
View Strains carrying other alleles of Mitf     (8 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms
Albinism, Ocular, with Sensorineural Deafness - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Tietz Syndrome - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Waardenburg Syndrome, Type IIA; WS2A - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
View Mammalian Phenotype Terms

Mammalian Phenotype Terms
      assigned by genotype

MitfMi-wh/MitfMi-wh

        B6.Cg-MitfMi-wh
  • pigmentation phenotype
  • abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
    • pigment granules are absent at E11
    • at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
    • after E12 in some area the cells are columnar rather than cuboidal
    • at all stages the number of mitoses is increased compared to control pigment layers
    • abnormal retinal pigmentation (MGI Ref ID J:5046)
      • pigment granules are absent from the pigment layer at E11
      • after E12, a few pigment granules may be found in the front edge of the pigment layer
      • at birth a few pigment granules are present near the iris
  • vision/eye phenotype
  • abnormal eye development (MGI Ref ID J:5046)
    • at E12 the choroid fissure is mostly closed but the joining of the retinal nervous layer is not smooth and a large retinal eversion is present at the rear of the optic cup where the fissure fails to close
    • in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure
    • abnormal optic cup morphology (MGI Ref ID J:5046)
      • slightly reduced in size from E13 onwards
      • irregularly formed surrounding less than half of the spherical lens
    • abnormal optic stalk morphology (MGI Ref ID J:5046)
      • slight increase in diameter at E11
      • shorter and somewhat greater in diameter at E11.5 and E12
  • abnormal posterior eye segment morphology (MGI Ref ID J:5046)
    • the lens fills the space normally occupied by the vitreous body
    • abnormal choroid morphology (MGI Ref ID J:5046)
      • at birth the choroid fissure is irregularly closed in the anterior eye and open from the posterior part of the lens to the rear of the optic cup
      • in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure
    • abnormal retinal neuronal layer morphology (MGI Ref ID J:5046)
      • at birth, the layers are less clearly defined
    • abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
      • pigment granules are absent at E11
      • at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region
      • after E12 in some area the cells are columnar rather than cuboidal
      • at all stages the number of mitoses is increased compared to control pigment layers
      • abnormal retinal pigmentation (MGI Ref ID J:5046)
        • pigment granules are absent from the pigment layer at E11
        • after E12, a few pigment granules may be found in the front edge of the pigment layer
        • at birth a few pigment granules are present near the iris
  • microphthalmia (MGI Ref ID J:5046)
    • slightly smaller at birth
  • skeleton phenotype
  • *normal* skeleton phenotype (MGI Ref ID J:5046)
    • unlike MitfMi homozygotes no skeletal abnormalities are seen
  • homeostasis/metabolism phenotype
  • decreased bleeding time (MGI Ref ID J:7327)
    • bleed time of only 1 minute after tail nick is significantly less than the 3.8 minutes in C57BL/6J controls

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

MitfMi-wh/Mitf+

        involves: C57BL/6 * DBA
  • pigmentation phenotype
  • abnormal skin pigmentation (MGI Ref ID J:13058)
    • reduced foot pigmentation
    • abnormal tail pigmentation (MGI Ref ID J:13058)
      • reduced tail pigmentation
  • diluted coat color (MGI Ref ID J:13058)
    • coat color is gray and somewhat lighter than that of Myo5ad homozygotes
    • coat color darkens slightly with age
  • reduced eye pigmentation (MGI Ref ID J:13058)
    • eyes are a very dark ruby color
  • skin/coat/nails phenotype
  • abnormal skin pigmentation (MGI Ref ID J:13058)
    • reduced foot pigmentation
    • abnormal tail pigmentation (MGI Ref ID J:13058)
      • reduced tail pigmentation
  • diluted coat color (MGI Ref ID J:13058)
    • coat color is gray and somewhat lighter than that of Myo5ad homozygotes
    • coat color darkens slightly with age
  • limbs/digits/tail phenotype
  • abnormal tail pigmentation (MGI Ref ID J:13058)
    • reduced tail pigmentation
  • vision/eye phenotype
  • reduced eye pigmentation (MGI Ref ID J:13058)
    • eyes are a very dark ruby color

MitfMi-wh/MitfMi-wh

        involves: C57BL/6 * DBA
  • pigmentation phenotype
  • absent coat pigmentation (MGI Ref ID J:13058)
    • coat color is indistinguishable from that of Tyrc homozygotes
  • ocular albinism (MGI Ref ID J:13058)
    • eyes are pink and pigmentless
  • vision/eye phenotype
  • microphthalmia (MGI Ref ID J:13058)
    • eye size appears reduced compared to f Tyrc homozygotes
  • ocular albinism (MGI Ref ID J:13058)
    • eyes are pink and pigmentless
  • growth/size phenotype
  • decreased body size (MGI Ref ID J:13058)
    • reduced body size compared to f Tyrc homozygotes
  • reproductive system phenotype
  • decreased litter size (MGI Ref ID J:13058)
    • litter size is reduced in homozygous female to homozygous male crosses
  • skin/coat/nails phenotype
  • absent coat pigmentation (MGI Ref ID J:13058)
    • coat color is indistinguishable from that of Tyrc homozygotes
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

MitfMi-wh related

Dermatology Research
Color and White Spotting Defects

Endocrine Deficiency Research
Bone/Bone Marrow Defects

Immunology and Inflammation Research
Immunodeficiency Associated with Other Defects

Mouse/Human Gene Homologs
Waardenburg syndrome, type IIA

Neurobiology Research
Vestibular and Hearing Defects

Sensorineural Research
Eye Defects
Vestibular and Hearing Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol MitfMi-wh
Allele Name white
Allele Type Spontaneous
Common Name(s) Miwh;
Strain of Origin(C57BL x DBA)F1
Gene Symbol and Name Mitf, microphthalmia-associated transcription factor
Chromosome 6
Gene Common Name(s) MI; WS2A; bHLHe32; black eyed white; bw; mi; microphthalmia; vit; vitiligo; wh;
General Note Combination heterozygotes of MitfMi-wh/MitfMi, MitfMi-wh/MitfMi-b, and MitfMi-wh/MitfMi-ws show some interallelic complementation in that the heterozygote of the two alleles is more nearlynormal than either homozygote (J:12967, J:19656). MitfMi-b/MitfMi-wh agouti mice are light cream with white spots and ruby eyes (J:15061).
Molecular Note T to A transversion at bp 764, which leads to an isoleucine to asparagine substitution at the corresponding amino acid (212) in the encoded protein. This mutation is in the basic region of the protein. [MGI Ref ID J:19656] [MGI Ref ID J:21366]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Deol MS. 1967. The neural crest and the acoustic ganglion. J Embryol Exp Morphol 17(3):533-41. [PubMed: 6049665]  [MGI Ref ID J:5048]

Ge Y; Jippo T; Lee YM; Adachi S; Kitamura Y. 2001. Independent influence of strain difference and mi transcription factor on the expression of mouse mast cell chymases. Am J Pathol 158(1):281-92. [PubMed: 11141502]  [MGI Ref ID J:67337]

Hodgkinson CA; Moore KJ; Nakayama A; Steingrimsson E; Copeland NG; Jenkins NA; Arnheiter H. 1993. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74(2):395-404. [PubMed: 8343963]  [MGI Ref ID J:13562]

Jippo T; Morii E; Ito A; Kitamura Y. 2003. Effect of anatomical distribution of mast cells on their defense function against bacterial infections: demonstration using partially mast cell-deficient tg/tg mice. J Exp Med 197(11):1417-25. [PubMed: 12771178]  [MGI Ref ID J:83732]

Motohashi H; Hozawa K; Oshima T; Takeuchi T; Takasaka T. 1994. Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice. Hear Res 80(1):10-20. [PubMed: 7852195]  [MGI Ref ID J:21682]

Ogihara H; Morii E; Kim DK; Oboki K; Kitamura Y. 2001. Inhibitory effect of the transcription factor encoded by the mutant mi microphthalmia allele on transactivation of mouse mast cell protease 7 gene. Blood 97(3):645-51. [PubMed: 11157480]  [MGI Ref ID J:67218]

Raisz LG; Simmons HA; Gworek SC; Eilon G. 1977. Studies on congenital osteopetrosis in microphthalmic mice using organ cultures: impairment of bone resorption in response to physiologic stimulators. J Exp Med 145(4):857-65. [PubMed: 870607]  [MGI Ref ID J:5804]

Steingrimsson E; Moore KJ; Lamoreux ML; Ferre-D'Amare AR; Burley SK; Zimring DC; Skow LC; Hodgkinson CA; Arnheiter H; Copeland NG; Jenkins NA. 1994. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences [see comments] Nat Genet 8(3):256-63. [PubMed: 7874168]  [MGI Ref ID J:21366]

Tachibana M; Perez-Jurado LA; Nakayama A; Hodgkinson CA; Li X; Schneider M; Miki T; Fex J; Francke U; Arnheiter H. 1994. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Hum Mol Genet 3(4):553-7. [PubMed: 8069297]  [MGI Ref ID J:17853]

MitfMi-wh related

Beechey CV. 2004. A reassessment of imprinting regions and phenotypes on mouse chromosome 6: Nap1l5 locates within the currently defined sub-proximal imprinting region. Cytogenet Genome Res 107(1-2):108-14. [PubMed: 15305064]  [MGI Ref ID J:93134]

Boissy RE; Lamoreux ML. 1995. In vivo and in vitro morphological analysis of melanocytes homozygous for the misp allele at the murine microphthalmia locus. Pigment Cell Res 8(6):294-301. [PubMed: 8789737]  [MGI Ref ID J:31402]

Diwakar G; Zhang D; Jiang S; Hornyak TJ. 2008. Neurofibromin as a regulator of melanocyte development and differentiation. J Cell Sci 121(Pt 2):167-77. [PubMed: 18089649]  [MGI Ref ID J:130856]

Grobman AB; Charles DR. 1947. Mutant white mice. A new dominant autosomal mutant affecting coat color in Mus musculus. J Hered 38:381-384.  [MGI Ref ID J:13058]

Gruneberg H. 1953. The relations of microphthalmia and white in the mouse. J Genet 51:359-362.  [MGI Ref ID J:13042]

Hollander WF. 1968. Complementary alleles at the mi-locus in the mouse. Genetics 60:189.  [MGI Ref ID J:12967]

Ito A; Jippo T; Wakayama T; Morii E; Koma Y; Onda H; Nojima H; Iseki S; Kitamura Y. 2003. SgIGSF: a new mast-cell adhesion molecule used for attachment to fibroblasts and transcriptionally regulated by MITF. Blood 101(7):2601-8. [PubMed: 12456501]  [MGI Ref ID J:115530]

Jippo T; Morii E; Ito A; Kitamura Y. 2003. Effect of anatomical distribution of mast cells on their defense function against bacterial infections: demonstration using partially mast cell-deficient tg/tg mice. J Exp Med 197(11):1417-25. [PubMed: 12771178]  [MGI Ref ID J:83732]

Kim DK; Morii E; Ogihara H; Lee YM; Jippo T; Adachi S; Maeyama K; Kim HM; Kitamura Y. 1999. Different effect of various mutant MITF encoded by mi, Mior, or Miwh allele on phenotype of murine mast cells. Blood 93(12):4179-86. [PubMed: 10361115]  [MGI Ref ID J:55734]

Konyukhov BV; Kindyakov BN; Malinina NA. 1994. Effects of the white allele of the mi locus on coat pigmentation in chimeric mice. Genet Res 63(3):175-81. [PubMed: 8082834]  [MGI Ref ID J:19656]

Konyukhov BV; Osipov VV. 1968. Interallelic complementation of microphthalmia and white genes in mice. Sov Genet 4(11):1457-1465.  [MGI Ref ID J:12001]

Larsen M. 1966. Microphthalmia-brownish, Mi<b> Mouse News Lett 34:41.  [MGI Ref ID J:15061]

Moller A; Eysteinsson T; Steingrimsson E. 2004. Electroretinographic assessment of retinal function in microphthalmia mutant mice. Exp Eye Res 78(4):837-48. [PubMed: 15037118]  [MGI Ref ID J:88541]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Munford RE. 1965. Mutation at mi locus Mouse News Lett 33:52.  [MGI Ref ID J:83501]

Nakayama A; Nguyen MT; Chen CC; Opdecamp K; Hodgkinson CA; Arnheiter H. 1998. Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mech Dev 70(1-2):155-66. [PubMed: 9510032]  [MGI Ref ID J:46130]

Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991]  [MGI Ref ID J:7327]

Packer SO. 1967. The eye and skeletal effects of two mutant alleles at the microphthalmia locus of Mus musculus. J Exp Zool 165(1):21-45. [PubMed: 4963367]  [MGI Ref ID J:5046]

Pratt BM. 1982. Site of gene action of the white allele (Miwh) of the microphthalmia locus: a dermal-epidermal recombination study. J Exp Zool 220(1):93-101. [PubMed: 7042901]  [MGI Ref ID J:6764]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Steingrimsson E; Arnheiter H; Hallsson JH; Lamoreux ML; Copeland NG; Jenkins NA. 2003. Interallelic complementation at the mouse mitf locus. Genetics 163(1):267-76. [PubMed: 12586714]  [MGI Ref ID J:82600]

Steingrimsson E; Moore KJ; Lamoreux ML; Ferre-D'Amare AR; Burley SK; Zimring DC; Skow LC; Hodgkinson CA; Arnheiter H; Copeland NG; Jenkins NA. 1994. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences [see comments] Nat Genet 8(3):256-63. [PubMed: 7874168]  [MGI Ref ID J:21366]

Steingrimsson E; Tessarollo L; Pathak B; Hou L; Arnheiter H; Copeland NG; Jenkins NA. 2002. Mitf and Tfe3, two members of the Mitf-Tfe family of bHLH-Zip transcription factors, have important but functionally redundant roles in osteoclast development. Proc Natl Acad Sci U S A 99(7):4477-82. [PubMed: 11930005]  [MGI Ref ID J:89821]

Zanjani HS; Vogel MW; Martinou JC; Delhaye-Bouchaud N; Mariani J. 1998. Postnatal expression of Hu-bcl-2 gene in Lurcher mutant mice fails to rescue Purkinje cells but protects inferior olivary neurons from target-related cell death. J Neurosci 18(1):319-27. [PubMed: 9412510]  [MGI Ref ID J:119889]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $1900.00
*Price(s) in US dollars ($)

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $2470.00
*Price(s) in US dollars ($)

Additional Supply Details

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
    One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845.

General Terms and Conditions


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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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