All Phenotypes Mitf<Mi> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mitf^Mi/Mitf^Mi	B6.Cg-Mitf^Mi	MGI:4356508
hm2	Mitf^Mi/Mitf^Mi	involves: C57BL/6J	MGI:4455018
hm3	Mitf^Mi/Mitf^Mi	Not Specified	MGI:3513118
ht4	Mitf^Mi/Mitf⁺	Not Specified	MGI:3513138
ht5	Mitf^Mi/Mitf^mi-sp	B6.Cg-Mitf^Mi/Mitf^mi-sp	MGI:3822043
ht6	Mitf^Mi/Mitf^tm1Arnh	involves: 129S1/Sv * C57BL/6	MGI:3774181
ht7	Mitf^tm6Arnh/Mitf^Mi	involves: 129S6/SvEvTac * C57BL/6N	MGI:5316604
ht8	Mitf^tm5Arnh/Mitf^Mi	involves: 129S6/SvEvTac * C57BL/6N	MGI:5316603
ht9	Mitf^tm7Arnh/Mitf^Mi	involves: 129S6/SvEvTac * C57BL/6N	MGI:5316605
ht10	Mitf^tm4Arnh/Mitf^Mi	involves: 129S6/SvEvTac * C57BL/6N	MGI:5316602
ht11	Mitf^Mi/Mitf^Mi-J	involves: C3HeB/Fe * C57BL/6J * C57BL/10J	MGI:5307227
ht12	Mitf^Mi/Mitf^mi-sp	involves: C57BL/6J	MGI:3821854
cx13	Mitf^Mi/Mitf^Mi Tfe3^tm1Est/Tfe3^tm1Est	either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)	MGI:4455022
cx14	Mitf^Mi/Mitf^Mi Tfec^tm1Est/Tfec^tm1Est	either: (involves: 129/Sv * 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J)	MGI:4455021
cx15	Mitf^Mi/Mitf⁺ Vsx2^tm1.1Itl/Vsx2^tm1.1Itl	involves: 129S1/Sv * 129S6/SvEvTac	MGI:5449365
cx16	Mitf^Mi/Mitf⁺ Vsx2^tm1.1Eml/Vsx2^tm1.1Eml	involves: 129S1/Sv * 129X1/SvJ	MGI:5449367
cx17	Mitf^Mi/Mitf⁺ Vsx2^or-J/Vsx2^or-J	involves: 129S1/Sv * 129X1/SvJ	MGI:5449363

Allelic Composition	Mitf^Mi/Mitf^Mi
Genetic Background	B6.Cg-Mitf^Mi

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

abnormal mast cell physiology ( J:53161 )

• 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

decreased serotonin level ( J:53161 )

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

hematopoietic system

abnormal mast cell physiology ( J:53161 )

• 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

Allelic Composition	Mitf^Mi/Mitf^Mi
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality ( J:89821 )

• mice do not live past 3 weeks of age

growth/size/body

failure of tooth eruption ( J:89821 )

• incisors fail to erupt

decreased body size ( J:89821 )

• mice are half the normal size

hematopoietic system

abnormal osteoclast morphology ( J:89821 )

• small osteoclasts

immune system

abnormal osteoclast morphology ( J:89821 )

• small osteoclasts

craniofacial

failure of tooth eruption ( J:89821 )

• incisors fail to erupt

pigmentation

absent coat pigmentation ( J:89821 )

• white coat

skeleton

failure of tooth eruption ( J:89821 )

• incisors fail to erupt

abnormal osteoclast morphology ( J:89821 )

• small osteoclasts

osteopetrosis ( J:89821 )

• severe osteopetrosis, with extensive accumulation of unresorbed endochondral bone and no bone marrow cavity

vision/eye

microphthalmia ( J:89821 )

integument

absent coat pigmentation ( J:89821 )

• white coat

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Mitf^Mi/Mitf^Mi and control

mortality/aging

decreased survivor rate ( J:125080 )

• viability is very low

postnatal lethality ( J:30758 )

• most die at weaning but infrequently some live several months

pigmentation

absent coat pigmentation ( J:30758 , J:125080 )

• homozygotes are white (J:125080)

abnormal retina pigment epithelium morphology ( J:5046 )

• at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular

• at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally

• at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy

• at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers

• at P0 folds are present

• at all stages the mitotic values in the pigment layer is increased compared to controls

abnormal retina pigmentation ( J:5046 )

• complete absence of pigment granules at E11.5 and at P0

decreased eye pigmentation ( J:30758 )

skeleton

abnormal skeleton morphology ( J:125080 )

failure of tooth eruption ( J:30758 )

• incisors fail to erupt

abnormal osteoclast morphology ( J:5046 )

• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls

• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls

• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls

increased osteoclast cell number ( J:5046 )

• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls

osteopetrosis ( J:30758 )

• probable defect is in progenitor osteoclasts and can be transmitted via transplanted spleen and bone marrow cells

• cells show defects in function and hormone response and fusion disability

vision/eye

decreased eye pigmentation ( J:30758 )

abnormal ciliary body morphology ( J:5046 )

• thicker and less folded than in control littermates at P0

abnormal eye development ( J:5046 )

• at E10.5 - E12 the average number of mitoses in the nervous layer of the retina is increased1.2 to 1.4 times compared to controls; however unlike in controls the number of mitoses does not increase from E14 - E16

• at all stages the mitotic values in the pigment layer is increased compared to controls

abnormal optic cup morphology ( J:5046 )

• arching of the cup is reduced and the medial-lateral diameter is increased at E10.5

• abnormal morphology persists through E11.5

• at P0 the cup is poorly arched around the lens

abnormal optic stalk morphology ( J:5046 )

• increased diameter of the stalk at E10.5

• abnormal morphology persists through E11.5

• optic stalk is still present at E14, E16, and P0 when in control littermates it is nearly or completely absent

coloboma ( J:5046 )

• at E16, the optic canal is open to the brain and this coloboma extends along the entire ventral surface of the optic cup and optic stalk

• in anterior regions the edges of the coloboma do not meet while in ventral regions the edges overlap

• at P0, the coloboma is wider at its anterior edge with overlapping edges in the posterior region and inversion of the pigmented layer is seen along one or both edges

microphthalmia ( J:5046 , J:30758 , J:125080 )

• first detectable at E14, becoming more obvious with age (J:5046)

• the eyes are severely reduced in size (J:125080)

eyelids fail to open ( J:125080 )

abnormal posterior eye segment morphology ( J:5046 )

• the lens fills the space normally occupied by the vitreous body

absent optic nerve ( J:5046 )

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

abnormal retina pigment epithelium morphology ( J:5046 )

• at E10.5 the pigment layer is thicker than in control littermates and this is more prominent dorsally where the layer is irregular

• at E11.5, this layer is a thickened monolayer ventrally and an irregular multilayered structure dorsally

• at E11.5 layer thickness is increased and dorsal regions are particularly thickened and wavy

• at P0, the ventral and ventral lateral portions of the layer are mainly a cuboidal monolayer while the dorsal and dorsal-lateral areas are composed of columnar cells in irregular multiple layers

• at P0 folds are present

• at all stages the mitotic values in the pigment layer is increased compared to controls

abnormal retina pigmentation ( J:5046 )

• complete absence of pigment granules at E11.5 and at P0

abnormal retina neuronal layer morphology ( J:5046 )

• the nervous layer is irregular in thickness, folded and the strata are less clearly defined

abnormal optic choroid morphology ( J:5046 )

• remains open at E12 and in areas along the edges inversion of the pigment epithelium is seen

immune system

decreased mast cell number ( J:6889 )

• deficiency in gut and liver

abnormal osteoclast morphology ( J:5046 )

• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls

• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls

• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls

increased osteoclast cell number ( J:5046 )

• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls

nervous system

abnormal cochlear hair cell morphology ( J:125080 )

absent optic nerve ( J:5046 )

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

craniofacial

failure of tooth eruption ( J:30758 )

• incisors fail to erupt

hematopoietic system

decreased mast cell number ( J:6889 )

• deficiency in gut and liver

abnormal osteoclast morphology ( J:5046 )

• cells are smaller, rounder, and contain fewer nuclei than in heterozygous controls

• the ratio of regular to irregular nuclei is significantly greater in homozygotes compared to heterozygous controls

• cells contain greater amounts of cytoplasmic basophilia and cytoplasmic RNA compared to heterozygous controls

increased osteoclast cell number ( J:5046 )

• increase in the number of osteoclasts on the parietal bones of most homozygotes at P0, P3, P7.5 and P10 compared to heterozygous controls

hearing/vestibular/ear

abnormal cochlea morphology ( J:125080 )

• no section of the cochlear duct was ever found to be normal

abnormal scala media morphology ( J:125080 )

abnormal cochlear hair cell morphology ( J:125080 )

abnormal stria vascularis morphology ( J:125080 )

• abnormal in its entirety

abnormal vestibular saccule morphology ( J:125080 )

• the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule

integument

absent coat pigmentation ( J:30758 , J:125080 )

• homozygotes are white (J:125080)

growth/size/body

failure of tooth eruption ( J:30758 )

• incisors fail to erupt

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness	DOID:0090100		J:30758
Tietz syndrome	DOID:0090002	OMIM:103500	J:30758
Waardenburg syndrome type 2A	DOID:0110950	OMIM:193510	J:30758

Allelic Composition	Mitf^Mi/Mitf⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

abnormal coat/hair pigmentation ( J:125080 )

• slight dilution of the fur in the young returns to normal in the adult

white spotting ( J:30758 , J:125080 )

• 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)

belly spot ( J:30758 , J:125080 )

head spot ( J:30758 , J:125080 )

abnormal iris stromal pigmentation ( J:30758 )

• less iris pigment than normal

decreased eye pigmentation ( J:125080 )

• iris pigmentation is reduced

vision/eye

abnormal iris stromal pigmentation ( J:30758 )

• less iris pigment than normal

decreased eye pigmentation ( J:125080 )

• iris pigmentation is reduced

hearing/vestibular/ear

abnormal cochlea morphology ( J:125080 )

• no section of the cochlear duct was ever found to be normal

abnormal cochlear hair cell morphology ( J:125080 )

abnormal stria vascularis morphology ( J:125080 )

• abnormal in its entirety

abnormal vestibular saccule morphology ( J:125080 )

• the majority of ears show dedifferentiation and cellular migrations in the cochlear duct and the saccule

nervous system

abnormal cochlear hair cell morphology ( J:125080 )

integument

abnormal coat/hair pigmentation ( J:125080 )

• slight dilution of the fur in the young returns to normal in the adult

white spotting ( J:30758 , J:125080 )

• 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)

belly spot ( J:30758 , J:125080 )

head spot ( J:30758 , J:125080 )

Allelic Composition	Mitf^Mi/Mitf^mi-sp
Genetic Background	B6.Cg-Mitf^Mi/Mitf^mi-sp

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Mitf^mi-sp mutation (10 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

absent coat pigmentation ( J:12946 )

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

absent skin pigmentation ( J:12946 )

decreased eye pigmentation ( J:12946 )

• ruby colored eyes

vision/eye

decreased eye pigmentation ( J:12946 )

• ruby colored eyes

integument

absent coat pigmentation ( J:12946 )

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

absent skin pigmentation ( J:12946 )

Allelic Composition	Mitf^Mi/Mitf^tm1Arnh
Genetic Background	involves: 129S1/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Mitf^tm1Arnh mutation (0 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

absent coat pigmentation ( J:130168 )

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

vision/eye

vision/eye phenotype ( J:130168 )

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

integument

absent coat pigmentation ( J:130168 )

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

Allelic Composition	Mitf^tm6Arnh/Mitf^Mi
Genetic Background	involves: 129S6/SvEvTac * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Mitf^tm6Arnh mutation (0 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

absent coat pigmentation ( J:182722 )

• white with occasional small black spots

integument

absent coat pigmentation ( J:182722 )

• white with occasional small black spots

Allelic Composition	Mitf^tm5Arnh/Mitf^Mi
Genetic Background	involves: 129S6/SvEvTac * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Mitf^tm5Arnh mutation (0 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

absent coat pigmentation ( J:182722 )

• white with occasional small black spots

integument

absent coat pigmentation ( J:182722 )

• white with occasional small black spots

Allelic Composition	Mitf^tm7Arnh/Mitf^Mi
Genetic Background	involves: 129S6/SvEvTac * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Mitf^tm7Arnh mutation (0 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

absent coat pigmentation ( J:182722 )

• white with occasional small black spots

integument

absent coat pigmentation ( J:182722 )

• white with occasional small black spots

Allelic Composition	Mitf^tm4Arnh/Mitf^Mi
Genetic Background	involves: 129S6/SvEvTac * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Mitf^tm4Arnh mutation (0 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

absent coat pigmentation ( J:182722 )

• white with occasional small black spots

integument

absent coat pigmentation ( J:182722 )

• white with occasional small black spots

Allelic Composition	Mitf^Mi/Mitf^Mi-J
Genetic Background	involves: C3HeB/Fe * C57BL/6J * C57BL/10J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Mitf^Mi-J mutation (0 available); any Mitf mutation (72 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

integument

absent coat pigmentation ( J:78801 )

pigmentation

absent coat pigmentation ( J:78801 )

absent eye pigmentation ( J:78801 )

vision/eye

absent eye pigmentation ( J:78801 )

microphthalmia ( J:78801 )

Allelic Composition	Mitf^Mi/Mitf^mi-sp
Genetic Background	involves: C57BL/6J

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

hypopigmentation ( J:12946 , J:35685 )

• 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)

decreased eye pigmentation ( J:12946 )

• ruby colored eyes

vision/eye

decreased eye pigmentation ( J:12946 )

• ruby colored eyes

Allelic Composition	Mitf^Mi/Mitf^Mi Tfe3^tm1Est/Tfe3^tm1Est
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:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Tfe3^tm1Est mutation (1 available); any Tfe3 mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

abnormal osteoclast morphology ( J:89821 )

• small osteoclasts

immune system

abnormal osteoclast morphology ( J:89821 )

• small osteoclasts

pigmentation

absent coat pigmentation ( J:89821 )

• white coat

skeleton

abnormal osteoclast morphology ( J:89821 )

• small osteoclasts

osteopetrosis ( J:89821 )

vision/eye

microphthalmia ( J:89821 )

integument

absent coat pigmentation ( J:89821 )

• white coat

Allelic Composition	Mitf^Mi/Mitf^Mi Tfec^tm1Est/Tfec^tm1Est
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:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Tfec^tm1Est mutation (0 available); any Tfec mutation (25 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

absent coat pigmentation ( J:89821 )

• white coat

skeleton

osteopetrosis ( J:89821 )

vision/eye

microphthalmia ( J:89821 )

integument

absent coat pigmentation ( J:89821 )

• white coat

Allelic Composition	Mitf^Mi/Mitf⁺ Vsx2^tm1.1Itl/Vsx2^tm1.1Itl
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Vsx2^tm1.1Itl mutation (0 available); any Vsx2 mutation (23 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

The dominant negative Mitf^Mi allele restores retinal development in the Vsx2 mutants

vision/eye

abnormal eye morphology ( J:190452 )

• substantial improvements in eye size, tissue histology and retinal neurogenesis compared to mice homozygous for Vsx2^tm1.1Itl alone

abnormal eye size ( J:190452 )

• substantial improvements in eye size compared to mice homozygous for Vsx2^tm1.1Itl alone

Allelic Composition	Mitf^Mi/Mitf⁺ Vsx2^tm1.1Eml/Vsx2^tm1.1Eml
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Vsx2^tm1.1Eml mutation (0 available); any Vsx2 mutation (23 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

The dominant negative Mitf^Mi allele restores retinal development in the Vsx2 mutants

vision/eye

abnormal eye morphology ( J:190452 )

• substantial improvements in eye size, tissue histology and retinal neurogenesis compared to mice homozygous for Vsx2^tm2.1Eml alone

abnormal eye size ( J:190452 )

• substantial improvements in eye size compared to mice homozygous for Vsx2^tm1.1Eml alone

Allelic Composition	Mitf^Mi/Mitf⁺ Vsx2^or-J/Vsx2^or-J
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitf^Mi mutation (3 available); any Mitf mutation (72 available)
Vsx2^or-J mutation (1 available); any Vsx2 mutation (23 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

The dominant negative Mitf^Mi allele restores retinal development in the Vsx2 mutants

vision/eye

abnormal eye morphology ( J:190452 )

• substantial improvements in eye size, tissue histology and retinal neurogenesis compared to mice homozygous for Vsx2^or-J alone

abnormal eye size ( J:190452 )

• substantial improvements in eye size compared to mice homozygous for Vsx2^or-J alone

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