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

Former Names B6.Cg-MitfMi-wh/Mitfmi    (Changed: 15-DEC-04 ) Type Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory 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 (Mitf^Mi-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 (Mitf^Mi) 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 (Mitf^Mi-wh/Mitf^Mi) closely resemble white homozygotes (Mitf^Mi-wh/Mitf^Mi-wh) but their eyes are slightly more pigmented and not as small.

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

Related Strains

Strains carrying   Mitf^Mi-wh allele

000593	B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000184	B6.Cg-MitfMi-wh/Mitfmi-rw/J
000157	B6.Cg-MitfMi-wh/Mitfmi-sp/J
000057	B6.Cg-MitfMi-wh/J
000350	B6By.Cg-KitW-v MitfMi-wh T/J
001253	STOCK MitfMi-wh +/+ Wnt7apx/J
000302	STOCK a/a MitfMi-wh +/+ Itpr1opt/J

View Strains carrying   Mitf^Mi-wh     (7 strains)

Strains carrying   Mitf^Mi allele

001573

B6C3Fe a/a-MitfMi/J

View Strains carrying   Mitf^Mi     (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)

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

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Mitf^Mi-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 Myo5a^d 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 Myo5a^d 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)

Mitf^Mi-wh/Mitf^Mi-wh

        involves: C57BL * DBA

• pigmentation phenotype
• absent coat pigmentation
  • coat color is indistinguishable from that of Tyr^c 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 Tyr^c 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 phenotype
• decreased body size
  • reduced body size compared to f Tyr^c 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 Tyr^c homozygotes   (MGI Ref ID J:13058)
  • the coat is entirely lacking pigment   (MGI Ref ID J:125080)

Mitf^Mi-wh/Mitf^Mi-wh

        B6.Cg-Mitf^Mi-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 eye development
  • 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 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 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 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 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 Mitf^Mi 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)

Mitf^Mi-wh/Mitf^Mi-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)

Mitf^Mi/Mitf⁺

        Background Not Specified

• pigmentation phenotype
• abnormal coat/hair pigmentation
  • slight dilution of the fur in the young returns to normal in the adult   (MGI Ref ID J:125080)
• • white spotting
    • white regions on tail   (MGI Ref ID J:30758)
    • some, but not all, heterozygotes have a small spot on the head between the eyes and ears or spots on the belly or tail   (MGI Ref ID J:125080)
  • • belly spot   (MGI Ref ID J:125080)
    • head spot   (MGI Ref ID J:125080)
• abnormal iris stromal pigmentation
  • less iris pigment than normal   (MGI Ref ID J:30758)
• decreased eye pigmentation
  • iris pigmentation is reduced   (MGI Ref ID J:125080)
• vision/eye phenotype
• abnormal iris stromal pigmentation
  • less iris pigment than normal   (MGI Ref ID J:30758)
• decreased eye pigmentation
  • iris pigmentation is reduced   (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
• abnormal coat/hair pigmentation
  • slight dilution of the fur in the young returns to normal in the adult   (MGI Ref ID J:125080)
• • white spotting
    • white regions on tail   (MGI Ref ID J:30758)
    • some, but not all, heterozygotes have a small spot on the head between the eyes and ears or spots on the belly or tail   (MGI Ref ID J:125080)
  • • belly spot   (MGI Ref ID J:125080)
    • head spot   (MGI Ref ID J:125080)

Mitf^Mi/Mitf^Mi

        Background Not Specified

• mortality/aging
• decreased survivor rate
  • viability is very low   (MGI Ref ID J:125080)
• postnatal lethality
  • most die at weaning but infrequently some live several months   (MGI Ref ID J:30758)
• pigmentation phenotype
• abnormal retinal pigment epithelium morphology
  • at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular   (MGI Ref ID J:5046)
  • at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally   (MGI Ref ID J:5046)
  • at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy   (MGI Ref ID J:5046)
  • 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   (MGI Ref ID J:5046)
  • at P0 folds are present   (MGI Ref ID J:5046)
  • at all stages the mitotic values in the pigment layer is increased compared to controls   (MGI Ref ID J:5046)
• • abnormal retinal pigmentation
    • complete absence of pigment granules at E11.5 and at P0   (MGI Ref ID J:5046)
• absent coat pigmentation   (MGI Ref ID J:30758)
  • homozygotes are white   (MGI Ref ID J:125080)
• decreased eye pigmentation   (MGI Ref ID J:30758)
• skeleton phenotype
• abnormal skeleton morphology   (MGI Ref ID J:125080)
• • abnormal osteoclast morphology
    • cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls   (MGI Ref ID J:5046)
    • the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls   (MGI Ref ID J:5046)
    • cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls   (MGI Ref ID J:5046)
  • • increased osteoclast cell number
      • increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls   (MGI Ref ID J:5046)
  • osteopetrosis
    • probable defect is in progenitor osteoclasts and can be transmitted via transplanted spleen and bone marrow cells   (MGI Ref ID J:30758)
    • cells show defects in function and hormone response and fusion disability   (MGI Ref ID J:30758)
• vision/eye phenotype
• abnormal ciliary body morphology
  • thicker and less folded than in control littermates at P0   (MGI Ref ID J:5046)
• abnormal eye development
  • 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   (MGI Ref ID J:5046)
  • at all stages the mitotic values in the pigment layer is increased compared to controls   (MGI Ref ID J:5046)
• • abnormal optic cup morphology
    • arching of the cup is reduced and the medial-lateral diameter is increased at E10.5   (MGI Ref ID J:5046)
    • abnormal morphology persists through E11.5   (MGI Ref ID J:5046)
    • at P0 the cup is poorly arched around the lens   (MGI Ref ID J:5046)
  • abnormal optic stalk morphology
    • increased diameter of the stalk at E10.5   (MGI Ref ID J:5046)
    • abnormal morphology persists through E11.5   (MGI Ref ID J:5046)
    • optic stalk is still present at E14, E16, and P0 when in control littermates it is nearly or completely absent   (MGI Ref ID J:5046)
  • coloboma
    • 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   (MGI Ref ID J:5046)
    • in anterior regions the edges of the coloboma do not meet while in ventral regions the edges overlap   (MGI Ref ID J:5046)
    • 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   (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 choroid morphology
    • remains open at E12 and in areas along the edges inversion of the pigment epithelium is seen   (MGI Ref ID J:5046)
  • abnormal retinal neuronal layer morphology
    • the nervous layer is irregular in thickness, folded and the strata are less clearly defined   (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   (MGI Ref ID J:5046)
  • abnormal retinal pigment epithelium morphology
    • at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular   (MGI Ref ID J:5046)
    • at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally   (MGI Ref ID J:5046)
    • at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy   (MGI Ref ID J:5046)
    • 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   (MGI Ref ID J:5046)
    • at P0 folds are present   (MGI Ref ID J:5046)
    • at all stages the mitotic values in the pigment layer is increased compared to controls   (MGI Ref ID J:5046)
  • • abnormal retinal pigmentation
      • complete absence of pigment granules at E11.5 and at P0   (MGI Ref ID J:5046)
  • absent optic nerve
    • 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   (MGI Ref ID J:5046)
• decreased eye pigmentation   (MGI Ref ID J:30758)
• eyelids fail to open   (MGI Ref ID J:125080)
• microphthalmia   (MGI Ref ID J:30758)
  • first detectable at E14, becoming more obvious with age   (MGI Ref ID J:5046)
  • the eyes are severely reduced in size   (MGI Ref ID J:125080)
• immune system phenotype
• abnormal osteoclast morphology
  • cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls   (MGI Ref ID J:5046)
  • the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls   (MGI Ref ID J:5046)
  • cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls   (MGI Ref ID J:5046)
• • increased osteoclast cell number
    • increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls   (MGI Ref ID J:5046)
• decreased mast cell number
  • deficiency in gut and liver   (MGI Ref ID J:6889)
• nervous system phenotype
• abnormal cochlear hair cell morphology   (MGI Ref ID J:125080)
• absent optic nerve
  • 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   (MGI Ref ID J:5046)
• craniofacial phenotype
• failure of tooth eruption
  • incisors fail to erupt   (MGI Ref ID J:30758)
• hematopoietic system phenotype
• abnormal osteoclast morphology
  • cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls   (MGI Ref ID J:5046)
  • the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls   (MGI Ref ID J:5046)
  • cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls   (MGI Ref ID J:5046)
• • increased osteoclast cell number
    • increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls   (MGI Ref ID J:5046)
• decreased mast cell number
  • deficiency in gut and liver   (MGI Ref ID J:6889)
• 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 scala media morphology   (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)
• integument phenotype
• absent coat pigmentation   (MGI Ref ID J:30758)
  • homozygotes are white   (MGI Ref ID J:125080)

Mitf^Mi/Mitf^Mi

        involves: C57BL/6J

• mortality/aging
• postnatal lethality
  • mice do not live past 3 weeks of age   (MGI Ref ID J:89821)
• growth/size phenotype
• decreased body size
  • mice are half the normal size   (MGI Ref ID J:89821)
• hematopoietic system phenotype
• abnormal osteoclast morphology
  • small osteoclasts   (MGI Ref ID J:89821)
• immune system phenotype
• abnormal osteoclast morphology
  • small osteoclasts   (MGI Ref ID J:89821)
• craniofacial phenotype
• failure of tooth eruption
  • incisors fail to erupt   (MGI Ref ID J:89821)
• pigmentation phenotype
• absent coat pigmentation
  • white coat   (MGI Ref ID J:89821)
• skeleton phenotype
• abnormal osteoclast morphology
  • small osteoclasts   (MGI Ref ID J:89821)
• osteopetrosis
  • severe osteopetrosis, with extensive accumulation of unresorbed endochondral bone and no bone marrow cavity   (MGI Ref ID J:89821)
• vision/eye phenotype
• 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:

Mitf^Mi-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

Mouse/Human Gene Homologs
Waardenburg syndrome, type IIA

Neurobiology Research
Hearing Defects

Sensorineural Research
Eye Defects
Hearing Defects

Mitf^Mi 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, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects

Mouse/Human Gene Homologs
Waardenburg syndrome, type IIA

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
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)		BCC2; CMM8; Gsfbcc2; MI; WS2; WS2A; bHLHe32; black eyed white; bw; gsf bright coat colour 2; 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

Helpful Links

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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]

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]

Mitf^Mi-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]

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]

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]

Mitf^Mi 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]

Buac K; Xu M; Cronin J; Weeraratna AT; Hewitt SM; Pavan WJ. 2009. NRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation. Pigment Cell Melanoma Res 22(6):773-84. [PubMed: 19659570]  [MGI Ref ID J:160209]

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]

Cicero SA; Johnson D; Reyntjens S; Frase S; Connell S; Chow LM; Baker SJ; Sorrentino BP; Dyer MA. 2009. Cells previously identified as retinal stem cells are pigmented ciliary epithelial cells. Proc Natl Acad Sci U S A 106(16):6685-90. [PubMed: 19346468]  [MGI Ref ID J:148343]

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]

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]

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]

Hagiyama M; Ichiyanagi N; Kimura KB; Murakami Y; Ito A. 2009. Expression of a soluble isoform of cell adhesion molecule 1 in the brain and its involvement in directional neurite outgrowth. Am J Pathol 174(6):2278-89. [PubMed: 19435791]  [MGI Ref ID J:148763]

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]

Shahlaee AH; Brandal S; Lee YN; Jie C; Takemoto CM. 2007. Distinct and shared transcriptomes are regulated by microphthalmia-associated transcription factor isoforms in mast cells. J Immunol 178(1):378-88. [PubMed: 17182576]  [MGI Ref ID J:141927]

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]

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; 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]

Stevens J; Loutit JF. 1982. Mast cells in spotted mutant mice (W Ph mi). Proc R Soc Lond B Biol Sci 215(1200):405-9. [PubMed: 6127714]  [MGI Ref ID J:6889]

Tagaya H; Kunisada T; Yamazaki H; Yamane T; Tokuhisa T; Wagner EF; Sudo T; Shultz LD; Hayashi SI. 2000. Intramedullary and extramedullary B lymphopoiesis in osteopetrotic mice. Blood 95(11):3363-70. [PubMed: 10828017]  [MGI Ref ID J:82593]

Tassabehji M; Newton VE; Read AP. 1994. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene [see comments] Nat Genet 8(3):251-5. [PubMed: 7874167]  [MGI Ref ID J:24202]

Walker DG. 1975. Spleen cells transmit osteopetrosis in mice. Science 190(4216):785-7. [PubMed: 1198094]  [MGI Ref ID J:5599]

Watanabe H; Tatsumi K; Yokoi H; Higuchi T; Iwai M; Fukuoka M; Fujiwara H; Fujita K; Nakayama H; Mori T; Fujita J. 1997. Ovulation defect and its restoration by bone marrow transplantation in osteopetrotic mutant mice of Mitf(mi)/Mitf(mi) genotype. Biol Reprod 57(6):1394-400. [PubMed: 9408245]  [MGI Ref ID J:44459]

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]

Yamada G; Nakamura S; Haraguchi R; Terai K; Nomura S; Kitamura Y ; Minami T ; Yamada MO ; Suzuki S ; Izumi H ; Nagata R. 1998. Microphthalmia (mi) mice display an aberrant bone trace element composition. Biol Trace Elem Res 62(1-2):75-82. [PubMed: 9630426]  [MGI Ref ID J:48205]

Yang S; Zhang Y; Ries WL; Key LL Jr. 1995. Characterization of M-CSF and its receptor in microphthalmic mice. Exp Hematol 23(2):126-32. [PubMed: 7828669]  [MGI Ref ID J:22788]

Yokoi H; Nakayama H; Horie K; Fukumoto M; Fujita K; Kaneko Y; Iwai M; Natsuyama S; Kanzaki H; Mori KJ; Fujita J. 1994. High incidence of uterine inversion in mast cell-deficient osteopetrotic mutant mice of mi/mi genotype. Biol Reprod 50(5):1034-9. [PubMed: 7517699]  [MGI Ref ID J:18274]

Zou C; Levine EM. 2012. Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA binding. PLoS Genet 8(9):e1002924. [PubMed: 23028343]  [MGI Ref ID J:190452]

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• Genomic DNA is available for this strain from the Mouse DNA Resource.

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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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Tel: 1-800-422-6423 or 1-207-288-5845
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Terms of Use

General Terms and Conditions

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phone:	207-288-6470
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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.

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.