Strain Name:

B6.Cg-MitfMi-wh/Mitfmi-sp/J

Stock Number:

000157

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Availability:

Cryopreserved - Ready for recovery

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Congenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
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Additional information on Congenic nomenclature.
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain MitfMi-wh CBA/J; Mitfmi-sp , C57BL/6J
GenerationN68p
Generation Definitions

Appearance
pale yellow with white spots
Associated genotype: MitfMi-wh/Mitfmi-sp

black
Associated genotype: Mitfmi-sp/Mitfmi-sp or Mitfmi-sp/+ or +/+

white
Associated genotype: MitfMi-wh/MitfMi-wh

gray with dark ruby eyes
Associated genotype: MitfMi-wh/+

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 microphthalmic but normal skeleton. Both homozygous and heterozygous mice for the microphthalmia-spotted spontaneous mutation (Mitfmi-sp) are not detectably different form wild-type mice in color but have slightly less tyrosinase activity in the skin. Compound heterozygotes (MitfMi-wh/Mitfmi-sp) are light yellow with dorsal and ventral white spots and pigemented eyes.

Development
The micropthalmia spotted allele, Mitfmi-sp, arose spontaneously in the B6.Cg-MitfMi-wh stock at N44 at The Jackson Laboratory in 1961. Origin of the Mitfmi-sp mutation was traced to the C57BL/6J female parent. There is no expression of the heterozygote Mitfmi-sp/+ or the homozygote, Mitfmi-sp/Mitfmi-sp. However it is expressed with MitfMi-wh as light yellow with dorsal and ventral white spots. It has been maintained by continuous crossing to the B6.Cg-MitfMi-wh strain. The stock was at N72 in 1981 and was cryopreserved as MitfMi-wh/Mitfmi-sp males mated to C57BL/6J females.

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
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     (7 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Albinism, Ocular, with Sensorineural Deafness
Tietz Syndrome
Waardenburg Syndrome, Type 2A; WS2A
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Melanoma, Cutaneous Malignant, Susceptibility to, 8; CMM8   (MITF)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

MitfMi-wh/Mitfmi-sp

        B6.Cg-MitfMi-wh/Mitfmi-sp/J
  • pigmentation phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:35685)
    • compound heterozygotes are pale yellow with well demarcated white spots on both the dorsum and ventrum   (MGI Ref ID J:12946)
    • at the first moult the hairs that had initially been pale yellow become sooty in color   (MGI Ref ID J:12946)
    • abnormal hair shaft melanin granule morphology
      • medullary granules vary greatly in size and shape and are less dense than wild-type   (MGI Ref ID J:12946)
    • diluted coat color   (MGI Ref ID J:12946)
    • white spotting   (MGI Ref ID J:12946)
    • yellow coat color   (MGI Ref ID J:12946)
  • abnormal foot pigmentation
    • the tail, feet, and ears are largely unpigmented although the eyes have pigment   (MGI Ref ID J:12946)
  • hypopigmentation   (MGI Ref ID J:12946)
    • decreased ear pigmentation   (MGI Ref ID J:12946)
    • decreased tail pigmentation   (MGI Ref ID J:12946)
  • craniofacial phenotype
  • decreased ear pigmentation   (MGI Ref ID J:12946)
  • hearing/vestibular/ear phenotype
  • decreased ear pigmentation   (MGI Ref ID J:12946)
  • limbs/digits/tail phenotype
  • decreased tail pigmentation   (MGI Ref ID J:12946)
  • integument phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:35685)
    • compound heterozygotes are pale yellow with well demarcated white spots on both the dorsum and ventrum   (MGI Ref ID J:12946)
    • at the first moult the hairs that had initially been pale yellow become sooty in color   (MGI Ref ID J:12946)
    • abnormal hair shaft melanin granule morphology
      • medullary granules vary greatly in size and shape and are less dense than wild-type   (MGI Ref ID J:12946)
    • diluted coat color   (MGI Ref ID J:12946)
    • white spotting   (MGI Ref ID J:12946)
    • yellow coat color   (MGI Ref ID J:12946)
  • abnormal foot pigmentation
    • the tail, feet, and ears are largely unpigmented although the eyes have pigment   (MGI Ref ID J:12946)
  • decreased ear pigmentation   (MGI Ref ID J:12946)
  • decreased tail pigmentation   (MGI Ref ID J:12946)
  • growth/size/body phenotype
  • decreased ear pigmentation   (MGI Ref ID J:12946)

Mitfmi-sp/Mitfmi-sp

        B6.Cg-MitfMi-wh/Mitfmi-sp/J
  • pigmentation phenotype
  • *normal* pigmentation phenotype   (MGI Ref ID J:35685)
    • homozygotes have a normal appearance since the mutation is only visibly evident in compound heterozygotes   (MGI Ref ID J:12946)
    • the number, kind, and arrangement of cortical pigment granules in the hair is normal   (MGI Ref ID J:12946)
    • hypopigmentation
      • despite the normal black coat color, homozygotes have reduced tyrosinase activity as evidenced by reduced incorporation of radiolabeled tyrosine into skin slices from 5 day old homozygotes   (MGI Ref ID J:12946)

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

MitfMi-wh/Mitf+

        involves: C57BL * DBA
  • pigmentation phenotype
  • abnormal foot pigmentation
    • reduced foot pigmentation   (MGI Ref ID J:13058)
  • abnormal iris pigmentation
    • moderate dilution of the iris pigmentation   (MGI Ref ID J:125080)
  • decreased eye pigmentation
    • eyes are a very dark ruby color   (MGI Ref ID J:13058)
  • decreased tail pigmentation
    • reduced tail pigmentation   (MGI Ref ID J:13058)
  • diluted coat color   (MGI Ref ID J:125080)
    • coat color is gray and somewhat lighter than that of Myo5ad homozygotes   (MGI Ref ID J:13058)
    • coat color darkens slightly with age   (MGI Ref ID J:13058)
  • white spotting
    • small spots may occur on the back, but spotting is not found on the head   (MGI Ref ID J:125080)
  • limbs/digits/tail phenotype
  • decreased tail pigmentation
    • reduced tail pigmentation   (MGI Ref ID J:13058)
  • vision/eye phenotype
  • abnormal iris pigmentation
    • moderate dilution of the iris pigmentation   (MGI Ref ID J:125080)
  • decreased eye pigmentation
    • eyes are a very dark ruby color   (MGI Ref ID J:13058)
  • integument phenotype
  • abnormal foot pigmentation
    • reduced foot pigmentation   (MGI Ref ID J:13058)
  • decreased tail pigmentation
    • reduced tail pigmentation   (MGI Ref ID J:13058)
  • diluted coat color   (MGI Ref ID J:125080)
    • coat color is gray and somewhat lighter than that of Myo5ad homozygotes   (MGI Ref ID J:13058)
    • coat color darkens slightly with age   (MGI Ref ID J:13058)
  • white spotting
    • small spots may occur on the back, but spotting is not found on the head   (MGI Ref ID J:125080)

MitfMi-wh/MitfMi-wh

        involves: C57BL * DBA
  • pigmentation phenotype
  • absent coat pigmentation
    • coat color is indistinguishable from that of Tyrc homozygotes   (MGI Ref ID J:13058)
    • the coat is entirely lacking pigment   (MGI Ref ID J:125080)
  • decreased eye pigmentation
    • little or no pigment in the iris   (MGI Ref ID J:125080)
  • ocular albinism
    • eyes are pink and pigmentless   (MGI Ref ID J:13058)
  • vision/eye phenotype
  • decreased eye pigmentation
    • little or no pigment in the iris   (MGI Ref ID J:125080)
  • microphthalmia
    • eye size appears reduced compared to f Tyrc homozygotes   (MGI Ref ID J:13058)
    • the eyes are only mildly reduced in size   (MGI Ref ID J:125080)
  • ocular albinism
    • eyes are pink and pigmentless   (MGI Ref ID J:13058)
  • growth/size/body phenotype
  • decreased body size
    • reduced body size compared to f Tyrc homozygotes   (MGI Ref ID J:13058)
  • reproductive system phenotype
  • decreased litter size
    • litter size is reduced in homozygous female to homozygous male crosses   (MGI Ref ID J:13058)
  • reduced fertility   (MGI Ref ID J:125080)
  • hearing/vestibular/ear phenotype
  • abnormal cochlea morphology
    • no section of the cochlear duct was ever found to be normal   (MGI Ref ID J:125080)
    • abnormal cochlear hair cell morphology   (MGI Ref ID J:125080)
    • abnormal stria vascularis morphology
      • abnormal in its entirety   (MGI Ref ID J:125080)
  • abnormal vestibular saccule morphology
    • the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule   (MGI Ref ID J:125080)
  • nervous system phenotype
  • abnormal cochlear hair cell morphology   (MGI Ref ID J:125080)
  • integument phenotype
  • absent coat pigmentation
    • coat color is indistinguishable from that of Tyrc homozygotes   (MGI Ref ID J:13058)
    • the coat is entirely lacking pigment   (MGI Ref ID J:125080)

MitfMi-wh/MitfMi-wh

        B6.Cg-MitfMi-wh
  • pigmentation phenotype
  • abnormal retinal pigment epithelium morphology
    • pigment granules are absent at E11   (MGI Ref ID J:5046)
    • at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region   (MGI Ref ID J:5046)
    • after E12 in some area the cells are columnar rather than cuboidal   (MGI Ref ID J:5046)
    • at all stages the number of mitoses is increased compared to control pigment layers   (MGI Ref ID J:5046)
    • abnormal retinal pigmentation
      • pigment granules are absent from the pigment layer at E11   (MGI Ref ID J:5046)
      • after E12, a few pigment granules may be found in the front edge of the pigment layer   (MGI Ref ID J:5046)
      • at birth a few pigment granules are present near the iris   (MGI Ref ID J:5046)
  • vision/eye phenotype
  • abnormal optic choroid morphology
    • 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   (MGI Ref ID J:5046)
    • in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure   (MGI Ref ID J:5046)
  • abnormal optic cup morphology
    • slightly reduced in size from E13 onwards   (MGI Ref ID J:5046)
    • irregularly formed surrounding less than half of the spherical lens   (MGI Ref ID J:5046)
  • abnormal optic fissure closure
    • 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   (MGI Ref ID J:5046)
    • in newborns the retinal eversion remains obvious in the unclosed portions of the choroid fissure   (MGI Ref ID J:5046)
  • abnormal optic stalk morphology
    • slight increase in diameter at E11   (MGI Ref ID J:5046)
    • shorter and somewhat greater in diameter at E11.5 and E12   (MGI Ref ID J:5046)
  • abnormal posterior eye segment morphology
    • the lens fills the space normally occupied by the vitreous body   (MGI Ref ID J:5046)
    • abnormal retinal neuronal layer morphology
      • at birth, the layers are less clearly defined   (MGI Ref ID J:5046)
    • abnormal retinal pigment epithelium morphology
      • pigment granules are absent at E11   (MGI Ref ID J:5046)
      • at E11.5 and E12, the pigment layer is irregullar, mainly in the dorsal region   (MGI Ref ID J:5046)
      • after E12 in some area the cells are columnar rather than cuboidal   (MGI Ref ID J:5046)
      • at all stages the number of mitoses is increased compared to control pigment layers   (MGI Ref ID J:5046)
      • abnormal retinal pigmentation
        • pigment granules are absent from the pigment layer at E11   (MGI Ref ID J:5046)
        • after E12, a few pigment granules may be found in the front edge of the pigment layer   (MGI Ref ID J:5046)
        • at birth a few pigment granules are present near the iris   (MGI Ref ID J:5046)
  • microphthalmia
    • slightly smaller at birth   (MGI Ref ID J:5046)
  • skeleton phenotype
  • *normal* skeleton phenotype
    • unlike MitfMi homozygotes no skeletal abnormalities are seen   (MGI Ref ID J:5046)
  • homeostasis/metabolism phenotype
  • decreased bleeding time
    • bleed time of only 1 minute after tail nick is significantly less than the 3.8 minutes in C57BL/6J controls   (MGI Ref ID J:7327)

MitfMi-wh/MitfMi-wh

        involves: C57BL * C57BL/6J * DBA
  • pigmentation phenotype
  • absent coat pigmentation
    • white coat   (MGI Ref ID J:89821)
  • decreased eye pigmentation
    • eyes are slightly pigmented   (MGI Ref ID J:89821)
  • skeleton phenotype
  • *normal* skeleton phenotype
    • normal bone development and mice do not develop osteopetrosis   (MGI Ref ID J:89821)
  • vision/eye phenotype
  • decreased eye pigmentation
    • eyes are slightly pigmented   (MGI Ref ID J:89821)
  • microphthalmia   (MGI Ref ID J:89821)
  • integument phenotype
  • absent coat pigmentation
    • white coat   (MGI Ref ID J:89821)
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, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects

Neurobiology Research
Hearing Defects

Sensorineural Research
Eye Defects
Hearing Defects

Mitfmi-sp related

Dermatology Research
Color and White Spotting Defects

Endocrine Deficiency Research
Bone/Bone Marrow Defects

Immunology, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects

Neurobiology Research
Hearing Defects

Sensorineural Research
Eye Defects
Hearing Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol MitfMi-wh
Allele Name white
Allele Type Spontaneous
Common Name(s) Miwh; mitfwh;
Strain of Origin(C57BL x DBA)F1
Gene Symbol and Name Mitf, microphthalmia-associated transcription factor
Chromosome 6
Gene Common Name(s) BCC2; CMM8; Gsfbcc2; MI; WS2; WS2A; bHLHe32; black eyed white; bw; gsf bright coat colour 2; 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-sp
Allele Name microphthalmia spotted
Allele Type Spontaneous
Common Name(s) MITFsp; sp;
Strain of OriginC57BL/6J
Gene Symbol and Name Mitf, microphthalmia-associated transcription factor
Chromosome 6
Gene Common Name(s) BCC2; CMM8; Gsfbcc2; MI; WS2; WS2A; bHLHe32; black eyed white; bw; gsf bright coat colour 2; mi; microphthalmia; vit; vitiligo; wh;
General Note Homozygotes and Mitfmi-sp/+ mice are not detectably different from wild-type mice in color but have slightly less tyrosinase activity in the skin. MitfMi-wh/Mitfmi-sp mice are light yellow with dorsal and ventral white spots and pigmented eyes. Medullary pigment granules in the hair show much clumping and are yellowish brown. Mitfmi/Mitfmi-sp mice are white with some pigmentation in the eyes and some flecks of pigmented hair on the back. All these combinations are viable and fertile (J:12946). Homozygotes and Mitfmi-sp/+ mice are not detectably different from wild-type mice in color but have slightly less tyrosinase activity in the skin. MitfMi-wh/Mitfmi-sp mice are light yellow with dorsal and ventral white spots and pigmented eyes. Medullary pigment granules in the hair show much clumping and are yellowish brown. Mitfmi/Mitfmi-sp mice are white with some pigmentation in the eyes and some flecksof pigmented hair on the back. All these combinations are viable and fertile (J:12946).
Molecular Note Sequencing studies reveal that this allele comprises the insertion of an extra cytosine residue into splicer acceptor 2, an 18 bp alternatively spliced exon. This exon is missing in transcripts encoded by this allele. The extra C residue is thought to either reduce use of the associated splice acceptor site or result in a frameshift mutation that creates a 19 bp rather than the expected 18 bp exon. [MGI Ref ID J:21366]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

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]

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

Asher JH Jr; Friedman TB. 1990. Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet 27(10):618-26. [PubMed: 2246770]  [MGI Ref ID J:200892]

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]

Debbache J; Zaidi MR; Davis S; Guo T; Bismuth K; Wang X; Skuntz S; Maric D; Pickel J; Meltzer P; Merlino G; Arnheiter H. 2012. In vivo Role of Alternative Splicing and Serine Phosphorylation of the Microphthalmia-associated Transcription Factor MITF. Genetics :. [PubMed: 22367038]  [MGI Ref ID J:182722]

Deol MS. 1970. The relationship between abnormalities of pigmentation and of the inner ear. Proc R Soc Lond B Biol Sci 175(39):201-17. [PubMed: 4392283]  [MGI Ref ID J:125080]

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]

Levy C; Khaled M; Robinson KC; Veguilla RA; Chen PH; Yokoyama S; Makino E; Lu J; Larue L; Beermann F; Chin L; Bosenberg M; Song JS; Fisher DE. 2010. Lineage-specific transcriptional regulation of DICER by MITF in melanocytes. Cell 141(6):994-1005. [PubMed: 20550935]  [MGI Ref ID J:167944]

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]

Qi X; Hong J; Chaves L; Zhuang Y; Chen Y; Wang D; Chabon J; Graham B; Ohmori K; Li Y; Huang H. 2013. Antagonistic regulation by the transcription factors C/EBPalpha and MITF specifies basophil and mast cell fates. Immunity 39(1):97-110. [PubMed: 23871207]  [MGI Ref ID J:208242]

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]

Wolfe HG. 1962. New allele at the mi locus (mi<sp>) Mouse News Lett 26:35.  [MGI Ref ID J:35685]

Wolfe HG; Coleman DL. 1964. Mi-spotted: a mutation in the mouse. Genet Res 5:432-440.  [MGI Ref ID J:12946]

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-sp related

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]

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]

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]

Tshori S; Gilon D; Beeri R; Nechushtan H; Kaluzhny D; Pikarsky E; Razin E. 2006. Transcription factor MITF regulates cardiac growth and hypertrophy. J Clin Invest 116(10):2673-81. [PubMed: 16998588]  [MGI Ref ID J:114531]

Wolfe HG. 1962. New allele at the mi locus (mi<sp>) Mouse News Lett 26:35.  [MGI Ref ID J:35685]

Wolfe HG; Coleman DL. 1964. Mi-spotted: a mutation in the mouse. Genet Res 5:432-440.  [MGI Ref ID J:12946]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


See Terms of Use tab for General Terms and Conditions


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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JAX® Mice
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Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
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Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries regarding Terms of Use

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phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (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. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON 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, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, 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 JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS 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 JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON 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 JACKSON, 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 JACKSON, 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 or services by JACKSON.


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