Strain Name:

B6.Cg-MitfMi-wh/MitfMi/J

Stock Number:

000158

Availability:

Repository-Cryopreserved

Description

Strain Information

Former Names B6.Cg-MitfMi-wh/Mitfmi    (Changed: 15-DEC-04 )
Type Congenic; Mutant Strain;
Additional information on Genetically Engineered Mutant Mice.
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain MitfMi ,Hertwig irr. Stock; MitfMi-wh (C57BL x DBA)F1

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 white mutant mice show slight microphthalmia but normal skeleton. Mice heterozygous for the microphthalmia (MitfMi) mutation have less iris pigment than wildtype and often have white spotting on the belly, head, and tail. Homozygous mutant mice have small eyes and are devoid of pigment in the eyes, inner ear, and skin. Homozygotes are deaf at an early age. There is a decrease of mast cells in the spleen and gut. Most homozygotes die around weaning but some may live for several months. There is a deficiency of secondary bone resorption (osteopetrosis) and the incisors fail to erupt. Immunological defects include decreased macrophage chemotactic responses, impaired proliferative responses to B cell and T cell mitogens, diminished responses in vitro to T-dependent and T-independent antigens and reduced NK cell activity. Compound heterozygotes (MitfMi-wh/MitfMi) closely resemble white homozygotes (MitfMi-wh/MitfMi-wh) but their eyes are slightly more pigmented and not as small.

Development
The white spontaneous mutation (MitfMi-wh) was found among offspring of a cross between the DBA and C57BL strains. The microphthalmia (MitfMi) was found among descendants of an irradiated male.

Related Strains

View Strains carrying   MitfMi-wh     (7 strains)

Strains carrying   MitfMi allele
001573   B6C3Fe a/a-MitfMi/J
View Strains carrying   MitfMi     (1 strain)

Strains carrying other alleles of Mitf
003046   B6(FVB)-MitfMi-Mee/J
000184   B6.Cg-MitfMi-wh/Mitfmi-rw/J
000157   B6.Cg-MitfMi-wh/Mitfmi-sp/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     (6 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

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

MitfMi/Mitf+

        Background Not Specified
  • pigmentation phenotype
  • abnormal iris stromal pigmentation (MGI Ref ID J:30758)
    • less iris pigment than normal
  • white spotting (MGI Ref ID J:30758)
    • white regions on tail
  • skin/coat/nails phenotype
  • white spotting (MGI Ref ID J:30758)
    • white regions on tail
  • vision/eye phenotype
  • abnormal iris stromal pigmentation (MGI Ref ID J:30758)
    • less iris pigment than normal

MitfMi/MitfMi

        Background Not Specified
  • lethality-postnatal
  • postnatal lethality (MGI Ref ID J:30758)
    • most die at weaning but infrequently some live several months
  • pigmentation phenotype
  • abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
    • at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
    • at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
    • at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
    • at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
    • at P0 folds are present
    • at all stages the mitotic values in the pigment layer is increased compared to controls
    • abnormal retinal pigmentation (MGI Ref ID J:5046)
      • complete absence of pigment granules at E11.5 and at P0
  • absent coat pigmentation (MGI Ref ID J:30758)
  • reduced eye pigmentation (MGI Ref ID J:30758)
  • skeleton phenotype
  • abnormal osteoclast morphology (MGI Ref ID J:5046)
    • cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
    • the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
    • cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
    • increased osteoclast cell number (MGI Ref ID J:5046)
      • increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
  • osteopetrosis (MGI Ref ID J:30758)
    • probable defect is in progenitor osteoclasts and can be transmitted via transplanted spleen and bone marrow cells
    • cells show defects in function and hormone response and fusion disability
  • vision/eye phenotype
  • abnormal ciliary body morphology (MGI Ref ID J:5046)
    • thicker and less folded than in control littermates at P0
  • abnormal eye development (MGI Ref ID J:5046)
    • at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
    • at all stages the mitotic values in the pigment layer is increased compared to controls
    • abnormal optic cup morphology (MGI Ref ID J:5046)
      • arching of the cup is reduced and the medial-lateral diameter is increased at E10.5
      • abnormal morphology persists through E11.5
      • at P0 the cup is poorly arched around the lens
    • abnormal optic stalk morphology (MGI Ref ID J:5046)
      • increased diameter of the stalk at E10.5
      • abnormal morphology persists through E11.5
      • optic stalk is still present at E14, E16, and P0 when in control littermates it is nearly or completely absent
    • coloboma (MGI Ref ID J:5046)
      • at E16, the optic canal is open to the brain and this coloboma extends along the entire ventral surface of the optic cup and optic stalk
      • in anterior regions the edges of the coloboma do not meet while in ventral regions the edges overlap
      • at P0, the coloboma is wider at its anterior edge with overlapping edges in the posterior region and inversion of the pigmented layer is seen along one or both edges
  • 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)
      • remains open at E12 and in areas along the edges inversion of the pigment epithelium is seen
    • abnormal retinal neuronal layer morphology (MGI Ref ID J:5046)
      • the nervous layer is irregular in thickness, folded and the strata are less clearly defined
      • at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
    • abnormal retinal pigment epithelium morphology (MGI Ref ID J:5046)
      • at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
      • at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
      • at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
      • at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
      • at P0 folds are present
      • at all stages the mitotic values in the pigment layer is increased compared to controls
      • abnormal retinal pigmentation (MGI Ref ID J:5046)
        • complete absence of pigment granules at E11.5 and at P0
    • absent optic nerve (MGI Ref ID J:5046)
      • at P0, the optic canal is open and nerve fibers pass toward the brain along the optic stalk; however, no defined optic nerve is present
  • microphthalmia (MGI Ref ID J:30758)
    • first detectable at E14, becoming more obvious with age
  • reduced eye pigmentation (MGI Ref ID J:30758)
  • immune system phenotype
  • abnormal osteoclast morphology (MGI Ref ID J:5046)
    • cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
    • the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
    • cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
    • increased osteoclast cell number (MGI Ref ID J:5046)
      • increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
  • decreased mast cell number (MGI Ref ID J:6889)
    • deficiency in gut and liver
  • skin/coat/nails phenotype
  • absent coat pigmentation (MGI Ref ID J:30758)
  • nervous system phenotype
  • absent optic nerve (MGI Ref ID J:5046)
    • at P0, the optic canal is open and nerve fibers pass toward the brain along the optic stalk; however, no defined optic nerve is present
  • craniofacial phenotype
  • failure of tooth eruption (MGI Ref ID J:30758)
    • incisors fail to erupt
  • hematopoietic system phenotype
  • abnormal osteoclast morphology (MGI Ref ID J:5046)
    • cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
    • the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
    • cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
    • increased osteoclast cell number (MGI Ref ID J:5046)
      • increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
  • decreased mast cell number (MGI Ref ID J:6889)
    • deficiency in gut and liver
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

MitfMi related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neural Crest Defects
Skeletal Defects (osteopetrosis)

Endocrine Deficiency Research
Bone/Bone Marrow Defects

Hematological Research
Mast Cell Deficiency (osteopetrosis)

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]
 
Allele Symbol MitfMi
Allele Name microphthalmia
Allele Type Not Specified
Common Name(s) m; mi;
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 This mutation produces an osteopetrosis that resembles human osteopetrosis more than that produced by Ctsfop. MitfMi mutant mice have normal levels of M-CSF and its receptor. Osteoplasts are produced, but are unable to function normally in bone resorption (J:22788).

Combination heterozygotes of MitfMi-wh/MitfMi show some interallelic complementation in that the heterozygote of the two alleles is more nearly normal than either homozygote (J:12967). MitfMi-Or/MitfMi mice resemble homozygous MitfMi-Or (J:15060).

Molecular Note This mutation was identified during an irradiation experiment, but it is not known whether it was induced in the treated male or spontaneously arose in an untreated mate. RT-PCR analysis identified a 3 nucleotide deletion in the transcript that results in a loss of one of four conserved arginine residues in the basic domain of the encoded protein. This mutation is predicted to affect the ability of the protein to bind DNA. [MGI Ref ID J:13562]

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]

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]

Ito A; Kataoka TR; Kim DK; Koma Y; Lee YM; Kitamura Y. 2001. Inhibitory effect on natural killer activity of microphthalmia transcription factor encoded by the mutant mi allele of mice. Blood 97(7):2075-83. [PubMed: 11264174]  [MGI Ref ID J:68425]

Morii E; Ogihara H; Kim DK; Ito A; Oboki K; Lee YM; Jippo T; Nomura S; Maeyama K; Lamoreux ML; Kitamura Y. 2001. 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 97(7):2038-44. [PubMed: 11264169]  [MGI Ref ID J:68426]

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]

MitfMi related

Bismuth K; Skuntz S; Hallsson JH; Pak E; Dutra AS; Steingrimsson E; Arnheiter H. 2008. An unstable targeted allele of the mouse mitf gene with a high somatic and germline reversion rate. Genetics 178(1):259-72. [PubMed: 18202372]  [MGI Ref ID J:130168]

Bumsted KM; Barnstable CJ. 2000. Dorsal retinal pigment epithelium differentiates as neural retina in the microphthalmia (mi/mi) mouse. Invest Ophthalmol Vis Sci 41(3):903-8. [PubMed: 10711712]  [MGI Ref ID J:60735]

Bumsted KM; Rizzolo LJ; Barnstable CJ. 2001. Defects in the MITF(mi/mi) apical surface are associated with a failure of outer segment elongation. Exp Eye Res 73(3):383-92. [PubMed: 11520113]  [MGI Ref ID J:115620]

Coles BL; Horsford DJ; McInnes RR; van der Kooy D. 2006. Loss of retinal progenitor cells leads to an increase in the retinal stem cell population in vivo. Eur J Neurosci 23(1):75-82. [PubMed: 16420417]  [MGI Ref ID J:105261]

Dastych J; Chroscielewska M; Michon T; Wyczolkowska J. 1999. Histamine content and mast cell number in tissues of mutant mice of (mi/mi) genotype. Inflamm Res 48 Suppl 1:S31-2. [PubMed: 10350149]  [MGI Ref ID J:57201]

Doi T; Abe S; Ide Y. 2003. Masticatory function and properties of masseter muscle fibers in microphthalmic (mi/mi) mice during postnatal development. Ann Anat 185(5):435-40. [PubMed: 14575270]  [MGI Ref ID J:102550]

Gelineau-van Waes J; Smith L; van Waes M; Wilberding J; Eudy JD; Bauer LK; Maddox J. 2008. Altered expression of the iron transporter Nramp1 (Slc11a1) during fetal development of the retinal pigment epithelium in microphthalmia-associated transcription factor Mitf(mi) and Mitf(vitiligo) mouse mutants. Exp Eye Res 86(2):419-33. [PubMed: 18191835]  [MGI Ref ID J:132493]

Gruneberg H. 1971. Exocrine glands and the Chievitz organ of some mouse mutants. J Embryol Exp Morphol 25(2):247-61. [PubMed: 5088022]  [MGI Ref ID J:140462]

Gruneberg H. 1948. Some observations on the microphthalmia gene in the mouse. J Genet 49:1-13.  [MGI Ref ID J:13036]

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

Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague.  [MGI Ref ID J:30758]

Guimond MJ; Wang B; Fujita J; Terhorst C; Croy BA. 1996. Pregnancy-associated uterine granulated metrial gland cells in mutant and transgenic mice. Am J Reprod Immunol 35(6):501-9. [PubMed: 8792932]  [MGI Ref ID J:113082]

Hero I; Farjah M; Scholtz CL. 1992. The effect of the microphthalmia gene on pre-natal optic nerve development in the mouse. Exp Eye Res 54(2):161-71. [PubMed: 1559545]  [MGI Ref ID J:2773]

Hertwig P. 1942. Neue Mutationen und Koppelungsgruppen bei der Hausmaus Z Indukt Abstamm Vererbungsl 80:220-246.  [MGI Ref ID J:208]

Hilbig H; Winkelmann E. 1994. Aberrant visual pathways in microphthalmic mice. J Hirnforsch 35(3):397-404. [PubMed: 7983371]  [MGI Ref ID J:22569]

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]

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

Hornyak TJ; Hayes DJ; Chiu L; Ziff EB. 2001. Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf. Mech Dev 101(1-2):47-59. [PubMed: 11231058]  [MGI Ref ID J:68168]

Horsford DJ; Nguyen MT; Sellar GC; Kothary R; Arnheiter H; McInnes RR. 2005. Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity. Development 132(1):177-87. [PubMed: 15576400]  [MGI Ref ID J:94374]

Isozaki K; Tsujimura T; Nomura S; Morii E; Koshimizu U; Nishimune Y; Kitamura Y. 1994. Cell type-specific deficiency of c-kit gene expression in mutant mice of mi/mi genotype. Am J Pathol 145(4):827-36. [PubMed: 7524330]  [MGI Ref ID J:20877]

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]

Ito A; Kataoka TR; Kim DK; Koma Y; Lee YM; Kitamura Y. 2001. Inhibitory effect on natural killer activity of microphthalmia transcription factor encoded by the mutant mi allele of mice. Blood 97(7):2075-83. [PubMed: 11264174]  [MGI Ref ID J:68425]

Ito A; Morii E; Kim DK; Kataoka TR; Jippo T; Maeyama K; Nojima H ; Kitamura Y. 1999. Inhibitory effect of the transcription factor encoded by the mi mutant allele in cultured mast cells of mice. Blood 93(4):1189-96. [PubMed: 9949161]  [MGI Ref ID J:53161]

Ito A; Morii E; Maeyama K; Jippo T; Kim DK; Lee YM; Ogihara H ; Hashimoto K ; Kitamura Y ; Nojima H. 1998. Systematic method to obtain novel genes that are regulated by mi transcription factor: impaired expression of granzyme B and tryptophan hydroxylase in mi/mi cultured mast cells. Blood 91(9):3210-21. [PubMed: 9558376]  [MGI Ref ID J:47456]

Kataoka TR; Komazawa N; Oboki K; Morii E; Nakano T. 2005. Reduced expression of IL-12 receptor beta2 and IL-18 receptor alpha genes in natural killer cells and macrophages derived from B6-mi/mi mice. Lab Invest 85(1):146-53. [PubMed: 15492754]  [MGI Ref ID J:95747]

Kataoka TR; Morii E; Oboki K; Kitamura Y. 2004. Strain-dependent inhibitory effect of mutant mi-MITF on cytotoxic activities of cultured mast cells and natural killer cells of mice. Lab Invest 84(3):376-84. [PubMed: 14716319]  [MGI Ref ID J:132572]

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]

Kim HM; Hirota S; Chung HT; Onoue H; Ito A; Morii E; Hirata T; Ohno S; Osada S; Kitamura Y; Nomura S. 1993. PKC gamma gene expression is delayed in postnatal central nervous system of mi/mi mice. J Mol Neurosci 4(4):245-53. [PubMed: 7522503]  [MGI Ref ID J:22008]

Koniukhov BV; Laminina NA. 1996. [Expression of the mutant gene mi in mice: white spotting pattern] Genetika 32(11):1521-7. [PubMed: 9119213]  [MGI Ref ID J:38756]

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]

Luchin A; Suchting S; Merson T; Rosol TJ; Hume DA; Cassady AI; Ostrowski MC. 2001. Genetic and physical interactions between Microphthalmia transcription factor and PU.1 are necessary for osteoclast gene expression and differentiation. J Biol Chem 276(39):36703-10. [PubMed: 11481336]  [MGI Ref ID J:71813]

Marks SC Jr; Walker DG. 1981. The hematogenous origin of osteoclasts: experimental evidence from osteopetrotic (microphthalmic) mice treated with spleen cells from beige mouse donors. Am J Anat 161(1):1-10. [PubMed: 6264778]  [MGI Ref ID J:6526]

Morii E; Ito A; Jippo T; Koma Y; Oboki K; Wakayama T; Iseki S; Lamoreux ML; Kitamura Y. 2004. Number of mast cells in the peritoneal cavity of mice: influence of microphthalmia transcription factor through transcription of newly found mast cell adhesion molecule, spermatogenic immunoglobulin superfamily. Am J Pathol 165(2):491-9. [PubMed: 15277223]  [MGI Ref ID J:91476]

Morii E; Oboki K; Jippo T; Kitamura Y. 2003. Additive effect of mouse genetic background and mutation of MITF gene on decrease of skin mast cells. Blood 101(4):1344-50. [PubMed: 12393515]  [MGI Ref ID J:82322]

Morii E; Ogihara H; Oboki K; Kataoka TR; Maeyama K; Fisher DE; Lamoreux ML; Kitamura Y. 2001. Effect of a large deletion of the basic domain of mi transcription factor on differentiation of mast cells. Blood 98(8):2577-9. [PubMed: 11588059]  [MGI Ref ID J:131110]

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]

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]

Potterf SB; Furumura M; Dunn KJ; Arnheiter H; Pavan WJ. 2000. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet 107(1):1-6. [PubMed: 10982026]  [MGI Ref ID J:63953]

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]

Rohan PJ; Stechschulte DJ; Li Y; Dileepan KN. 1997. Macrophage function in mice with a mutation at the microphthalmia (mi) locus. Proc Soc Exp Biol Med 215(3):269-74. [PubMed: 9207863]  [MGI Ref ID J:41586]

Roundy K; Kollhoff A; Eichwald EJ; Weis JJ; Weis JH. 1999. Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells. J Immunol 163(12):6671-8. [PubMed: 10586063]  [MGI Ref ID J:58982]

Roundy KM; Spangrude G; Weis JJ; Weis JH. 2005. Partial rescue of B cells in microphthalmic osteopetrotic marrow by loss of response to type I IFNs. Int Immunol 17(11):1495-503. [PubMed: 16186160]  [MGI Ref ID J:102222]

Sato M; Morii E; Takebayashi-Suzuki K; Yasui N; Ochi T; Kitamura Y; Nomura S. 1999. Microphthalmia-associated transcription factor interacts with PU.1 and c-Fos: determination of their subcellular localization. Biochem Biophys Res Commun 254(2):384-7. [PubMed: 9918847]  [MGI Ref ID J:114256]

Sharma SM; Bronisz A; Hu R; Patel K; Mansky KC; Sif S; Ostrowski MC. 2007. MITF and PU.1 recruit p38 MAPK and NFATc1 to target genes during osteoclast differentiation. J Biol Chem 282(21):15921-9. [PubMed: 17403683]  [MGI Ref ID J:122658]

Silver DL; Hou L; Somerville R; Young ME; Apte SS; Pavan WJ. 2008. The secreted metalloprotease AMAMTS20 is required for melanoblast survival PLoS Genet 4(2):e1000003. [PubMed: 18454205]  [MGI Ref ID J:133403]

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]

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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]

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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's Genotype Promise

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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Terms of Use

Terms of Use


General Terms and Conditions


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phone:207-288-6470
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JAX® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. THE LABORATORY EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, products or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.


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