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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
MitfMi
microphthalmia
MGI:1856085
Summary 17 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
MitfMi/MitfMi B6.Cg-MitfMi MGI:4356508
hm2
MitfMi/MitfMi involves: C57BL/6J MGI:4455018
hm3
MitfMi/MitfMi Not Specified MGI:3513118
ht4
MitfMi/Mitf+ Not Specified MGI:3513138
ht5
MitfMi/Mitfmi-sp B6.Cg-MitfMi/Mitfmi-sp MGI:3822043
ht6
MitfMi/Mitftm1Arnh involves: 129S1/Sv * C57BL/6 MGI:3774181
ht7
Mitftm4Arnh/MitfMi involves: 129S6/SvEvTac * C57BL/6N MGI:5316602
ht8
Mitftm5Arnh/MitfMi involves: 129S6/SvEvTac * C57BL/6N MGI:5316603
ht9
Mitftm6Arnh/MitfMi involves: 129S6/SvEvTac * C57BL/6N MGI:5316604
ht10
Mitftm7Arnh/MitfMi involves: 129S6/SvEvTac * C57BL/6N MGI:5316605
ht11
MitfMi/MitfMi-J involves: C3HeB/Fe * C57BL/6J * C57BL/10J MGI:5307227
ht12
MitfMi/Mitfmi-sp involves: C57BL/6J MGI:3821854
cx13
MitfMi/MitfMi
Tfectm1Est/Tfectm1Est
either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J) MGI:4455021
cx14
MitfMi/MitfMi
Tfe3tm1Est/Tfe3tm1Est
either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J) MGI:4455022
cx15
MitfMi/Mitf+
Vsx2tm1.1Itl/Vsx2tm1.1Itl
involves: 129S1/Sv * 129S6/SvEvTac MGI:5449365
cx16
MitfMi/Mitf+
Vsx2or-J/Vsx2or-J
involves: 129S1/Sv * 129X1/SvJ MGI:5449363
cx17
MitfMi/Mitf+
Vsx2tm1.1Eml/Vsx2tm1.1Eml
involves: 129S1/Sv * 129X1/SvJ MGI:5449367


Genotype
MGI:4356508
hm1
Allelic
Composition
MitfMi/MitfMi
Genetic
Background
B6.Cg-MitfMi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• serotonin concentrations in cultured mast cells are lower than in wild-type cells
• cultured mast cells exhibit no cytotoxicity towards YAC-1 cells unlike wild-type mast cells

homeostasis/metabolism
• serotonin concentrations in cultured mast cells are lower than in wild-type cells

hematopoietic system
• serotonin concentrations in cultured mast cells are lower than in wild-type cells
• cultured mast cells exhibit no cytotoxicity towards YAC-1 cells unlike wild-type mast cells




Genotype
MGI:4455018
hm2
Allelic
Composition
MitfMi/MitfMi
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice do not live past 3 weeks of age

growth/size/body
• incisors fail to erupt
• mice are half the normal size

hematopoietic system
• small osteoclasts

immune system
• small osteoclasts

craniofacial
• incisors fail to erupt

pigmentation

skeleton
• incisors fail to erupt
• small osteoclasts
• severe osteopetrosis, with extensive accumulation of unresorbed endochondral bone and no bone marrow cavity

vision/eye

integument




Genotype
MGI:3513118
hm3
Allelic
Composition
MitfMi/MitfMi
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

MitfMi/MitfMi and control

mortality/aging
• viability is very low
• most die at weaning but infrequently some live several months

pigmentation
• homozygotes are white (J:125080)
• at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
• at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
• at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
• at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
• at P0 folds are present
• at all stages the mitotic values in the pigment layer is increased compared to controls
• complete absence of pigment granules at E11.5 and at P0

skeleton
• incisors fail to erupt
• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls
• probable defect is in progenitor osteoclasts and can be transmitted via transplanted spleen and bone marrow cells
• cells show defects in function and hormone response and fusion disability

vision/eye
• thicker and less folded than in control littermates at P0
• at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
• at all stages the mitotic values in the pigment layer is increased compared to controls
• arching of the cup is reduced and the medial-lateral diameter is increased at E10.5
• abnormal morphology persists through E11.5
• at P0 the cup is poorly arched around the lens
• increased diameter of the stalk at E10.5
• abnormal morphology persists through E11.5
• optic stalk is still present at E14, E16, and P0 when in control littermates it is nearly or completely absent
• at E16, the optic canal is open to the brain and this coloboma extends along the entire ventral surface of the optic cup and optic stalk
• in anterior regions the edges of the coloboma do not meet while in ventral regions the edges overlap
• at P0, the coloboma is wider at its anterior edge with overlapping edges in the posterior region and inversion of the pigmented layer is seen along one or both edges
• first detectable at E14, becoming more obvious with age (J:5046)
• the eyes are severely reduced in size (J:125080)
• the lens fills the space normally occupied by the vitreous body
• 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
• at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular
• at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally
• at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy
• at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers
• at P0 folds are present
• at all stages the mitotic values in the pigment layer is increased compared to controls
• complete absence of pigment granules at E11.5 and at P0
• the nervous layer is irregular in thickness, folded and the strata are less clearly defined
• at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16
• remains open at E12 and in areas along the edges inversion of the pigment epithelium is seen

immune system
• deficiency in gut and liver
• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls

nervous system
• at P0, the optic canal is open and nerve fibers pass toward the brain along the optic stalk; however, no defined optic nerve is present

craniofacial
• incisors fail to erupt

hematopoietic system
• deficiency in gut and liver
• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls
• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls
• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls
• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls

hearing/vestibular/ear
• no section of the cochlear duct was ever found to be normal
• abnormal in its entirety
• the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule

integument
• homozygotes are white (J:125080)

growth/size/body
• incisors fail to erupt




Genotype
MGI:3513138
ht4
Allelic
Composition
MitfMi/Mitf+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• slight dilution of the fur in the young returns to normal in the adult
• white regions on tail (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 (J:125080)
• less iris pigment than normal
• iris pigmentation is reduced

vision/eye
• less iris pigment than normal
• iris pigmentation is reduced

hearing/vestibular/ear
• no section of the cochlear duct was ever found to be normal
• abnormal in its entirety
• the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule

nervous system

integument
• slight dilution of the fur in the young returns to normal in the adult
• white regions on tail (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 (J:125080)




Genotype
MGI:3822043
ht5
Allelic
Composition
MitfMi/Mitfmi-sp
Genetic
Background
B6.Cg-MitfMi/Mitfmi-sp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Mitfmi-sp mutation (10 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• by backcross generation N5 the coat color is all white with all hair devoid of pigment
• ruby colored eyes

vision/eye
• ruby colored eyes

integument
• by backcross generation N5 the coat color is all white with all hair devoid of pigment




Genotype
MGI:3774181
ht6
Allelic
Composition
MitfMi/Mitftm1Arnh
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Mitftm1Arnh mutation (0 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• mice have a white coat color rarely with some dark spots

vision/eye
N
• mice have normal size eyes compared to the small eyes in mice with homozygous null alleles of this gene

integument
• mice have a white coat color rarely with some dark spots




Genotype
MGI:5316602
ht7
Allelic
Composition
Mitftm4Arnh/MitfMi
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Mitftm4Arnh mutation (0 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• white with occasional small black spots

integument
• white with occasional small black spots




Genotype
MGI:5316603
ht8
Allelic
Composition
Mitftm5Arnh/MitfMi
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Mitftm5Arnh mutation (0 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• white with occasional small black spots

integument
• white with occasional small black spots




Genotype
MGI:5316604
ht9
Allelic
Composition
Mitftm6Arnh/MitfMi
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Mitftm6Arnh mutation (0 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• white with occasional small black spots

integument
• white with occasional small black spots




Genotype
MGI:5316605
ht10
Allelic
Composition
Mitftm7Arnh/MitfMi
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Mitftm7Arnh mutation (0 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• white with occasional small black spots

integument
• white with occasional small black spots




Genotype
MGI:5307227
ht11
Allelic
Composition
MitfMi/MitfMi-J
Genetic
Background
involves: C3HeB/Fe * C57BL/6J * C57BL/10J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
MitfMi-J mutation (0 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument

pigmentation

vision/eye




Genotype
MGI:3821854
ht12
Allelic
Composition
MitfMi/Mitfmi-sp
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Mitfmi-sp mutation (10 available); any Mitf mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• Background Sensitivity: prior to backcross generation N5 on the C57BL/6J background mice are white except for a variable number of faint irregular pigment patches; the faint dorsal pigmentation is lost with further backcrossing (J:12946)
• ruby colored eyes

vision/eye
• ruby colored eyes




Genotype
MGI:4455021
cx13
Allelic
Composition
MitfMi/MitfMi
Tfectm1Est/Tfectm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Tfectm1Est mutation (0 available); any Tfec mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation

skeleton

vision/eye

integument




Genotype
MGI:4455022
cx14
Allelic
Composition
MitfMi/MitfMi
Tfe3tm1Est/Tfe3tm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Tfe3tm1Est mutation (0 available); any Tfe3 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• small osteoclasts

immune system
• small osteoclasts

pigmentation

skeleton
• small osteoclasts

vision/eye

integument




Genotype
MGI:5449365
cx15
Allelic
Composition
MitfMi/Mitf+
Vsx2tm1.1Itl/Vsx2tm1.1Itl
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Vsx2tm1.1Itl mutation (0 available); any Vsx2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

The dominant negative MitfMi allele restores retinal development in the Vsx2 mutants

vision/eye
• substantial improvements in eye size, tissue histology and retinal neurogenesis compared to mice homozygous for Vsx2tm1.1Itl alone
• substantial improvements in eye size compared to mice homozygous for Vsx2tm1.1Itl alone




Genotype
MGI:5449363
cx16
Allelic
Composition
MitfMi/Mitf+
Vsx2or-J/Vsx2or-J
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Vsx2or-J mutation (2 available); any Vsx2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

The dominant negative MitfMi allele restores retinal development in the Vsx2 mutants

vision/eye
• substantial improvements in eye size, tissue histology and retinal neurogenesis compared to mice homozygous for Vsx2or-J alone
• substantial improvements in eye size compared to mice homozygous for Vsx2or-J alone




Genotype
MGI:5449367
cx17
Allelic
Composition
MitfMi/Mitf+
Vsx2tm1.1Eml/Vsx2tm1.1Eml
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
MitfMi mutation (3 available); any Mitf mutation (57 available)
Vsx2tm1.1Eml mutation (0 available); any Vsx2 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

The dominant negative MitfMi allele restores retinal development in the Vsx2 mutants

vision/eye
• substantial improvements in eye size, tissue histology and retinal neurogenesis compared to mice homozygous for Vsx2tm2.1Eml alone
• substantial improvements in eye size compared to mice homozygous for Vsx2tm1.1Eml alone





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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory