Phenotypes associated with this allele

• Allele Symbol: Mitf⁺
• Allele Name: wild type
• Allele ID: MGI:2178355
• Summary: 21 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Mitf^mi-Mhdabcc2/Mitf^+	C3HeB/FeJ-Mitf^mi-Mhdabcc2/Ieg	MGI:3041535
ht2	Mitf^Mi-b/Mitf^+	involves: 101/Rl * C3H/Rl	MGI:3526551
ht3	Mitf^Mi-Or/Mitf^+	involves: 101/Rl * C3H/Rl	MGI:4356529
ht4	Mitf^mi-enu122/Mitf^+	involves: 102 * C3H	MGI:3587636
ht5	Mitf^mi-enu198/Mitf^+	involves: 102 * C3H	MGI:4442434
ht6	Mitf^mi-x39/Mitf^+	involves: 102 * C3H	MGI:4442408
ht7	Mitf^mi-enu5/Mitf^+	involves: 102 * C3H/El	MGI:3041534
ht8	Mitf^Rorp/Mitf^+	involves: BALB/cAnN * C3H/HeN	MGI:2686998
ht9	Mitf^Mi-H/Mitf^+	involves: BALB/cAnN * C3H/HeN	MGI:2686995
ht10	Mitf^mi-tg/Mitf^+	involves: C3H/HeNCrl * C57BL/6NCrl	MGI:4356491
ht11	Mitf^Tg(Tff3-Tmem207)2Tamo/Mitf^+	involves: C57BL/6	MGI:6287155
ht12	Mitf^Mi-ws/Mitf^+	involves: C57BL/6	MGI:3630346
ht13	Mitf^Mi-Mee/Mitf^+	involves: C57BL/6 * FVB	MGI:3813272
ht14	Mitf^Mi-wh/Mitf^+	involves: C57BL * DBA	MGI:3044414
ht15	Mitf^Mi-Crc/Mitf^+	involves: CBA/CaCrc	MGI:2662973
ht16	Mitf^Mi/Mitf^+	Not Specified	MGI:3513138
cx17	Mitf^Mi/Mitf^+ Vsx2^tm1.1Itl/Vsx2^tm1.1Itl	involves: 129S1/Sv * 129S6/SvEvTac	MGI:5449365
cx18	Mitf^Mi/Mitf^+ Vsx2^or-J/Vsx2^or-J	involves: 129S1/Sv * 129X1/SvJ	MGI:5449363
cx19	Mitf^Mi/Mitf^+ Vsx2^tm1.1Eml/Vsx2^tm1.1Eml	involves: 129S1/Sv * 129X1/SvJ	MGI:5449367
cx20	Mitf^mi-vga9/Mitf^+ Pax6^Sey-Neu/Pax6^+	involves: C57BL/6 * CBA	MGI:5316876
cx21	Mitf^Mi-wh/Mitf^+ Myo5a^d/Myo5a^d	involves: C57BL * DBA	MGI:3762341

Genotype
MGI:3041535

ht1

• Allelic Composition: Mitf^mi-Mhdabcc2/Mitf⁺
• Genetic Background: C3HeB/FeJ-Mitf^mi-Mhdabcc2/Ieg

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

pigmentation

diluted coat color ( J:89276 )

• the dilute pigmented areas fade to light gray/white with age, while normally pigmented areas remain unchanged

white spotting ( J:89276 )

• white regions on the forehead, back and belly

belly spot ( J:89276 )

head spot ( J:89276 )

integument

diluted coat color ( J:89276 )

• the dilute pigmented areas fade to light gray/white with age, while normally pigmented areas remain unchanged

white spotting ( J:89276 )

• white regions on the forehead, back and belly

belly spot ( J:89276 )

head spot ( J:89276 )

Genotype
MGI:3526551

ht2

• Allelic Composition: Mitf^Mi-b/Mitf⁺
• Genetic Background: involves: 101/Rl * C3H/Rl

pigmentation

decreased ear pigmentation ( J:37067 )

• ears are pale

abnormal Harderian gland pigmentation ( J:37067 )

• pigment granules are absent

diluted coat color ( J:37067 )

• diluted pigmentation with brownish cast

decreased tail pigmentation ( J:37067 )

• tail is pale

abnormal eye pigmentation ( J:37067 )

• extreme reduction in choroid layer

abnormal choroid pigmentation ( J:37067 )

• only a few foci of pigment are found

endocrine/exocrine glands

abnormal Harderian gland pigmentation ( J:37067 )

• pigment granules are absent

hearing/vestibular/ear

decreased ear pigmentation ( J:37067 )

• ears are pale

limbs/digits/tail

decreased tail pigmentation ( J:37067 )

• tail is pale

vision/eye

abnormal eye pigmentation ( J:37067 )

• extreme reduction in choroid layer

abnormal choroid pigmentation ( J:37067 )

• only a few foci of pigment are found

craniofacial

decreased ear pigmentation ( J:37067 )

• ears are pale

integument

decreased ear pigmentation ( J:37067 )

• ears are pale

diluted coat color ( J:37067 )

• diluted pigmentation with brownish cast

decreased tail pigmentation ( J:37067 )

• tail is pale

growth/size/body

decreased ear pigmentation ( J:37067 )

• ears are pale

Genotype
MGI:4356529

ht3

• Allelic Composition: Mitf^Mi-Or/Mitf⁺
• Genetic Background: involves: 101/Rl * C3H/Rl

pigmentation

decreased ear pigmentation ( J:13426 )

• pale and pinkish

diluted coat color ( J:13426 , J:30149 )

• slightly (J:13426)

• slightly (J:30149)

belly spot ( J:13426 , J:30149 )

• often (J:13426)

head spot ( J:13426 )

• often

decreased tail pigmentation ( J:13426 )

• pale and pinkish

decreased eye pigmentation ( J:13426 )

• at birth, eye pigment is reduced

• however, adult mice exhibit full-color eye pigmentation

vision/eye

decreased eye pigmentation ( J:13426 )

• at birth, eye pigment is reduced

• however, adult mice exhibit full-color eye pigmentation

craniofacial

decreased ear pigmentation ( J:13426 )

• pale and pinkish

hearing/vestibular/ear

decreased ear pigmentation ( J:13426 )

• pale and pinkish

limbs/digits/tail

decreased tail pigmentation ( J:13426 )

• pale and pinkish

integument

decreased ear pigmentation ( J:13426 )

• pale and pinkish

diluted coat color ( J:13426 , J:30149 )

• slightly (J:13426)

• slightly (J:30149)

belly spot ( J:13426 , J:30149 )

• often (J:13426)

head spot ( J:13426 )

• often

decreased tail pigmentation ( J:13426 )

• pale and pinkish

growth/size/body

decreased ear pigmentation ( J:13426 )

• pale and pinkish

Genotype
MGI:3587636

ht4

• Allelic Composition: Mitf^mi-enu122/Mitf⁺
• Genetic Background: involves: 102 * C3H

vision/eye

abnormal retina pigmentation ( J:46254 )

• reduced retinal pigmentation

• iris and coat pigmentation normal and eye size normal

pigmentation

abnormal retina pigmentation ( J:46254 )

• reduced retinal pigmentation

• iris and coat pigmentation normal and eye size normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness		DOID:0090100		J:46254
Tietz syndrome		DOID:0090002	OMIM:103500	J:46254
Waardenburg syndrome type 2A		DOID:0110950	OMIM:193510	J:46254

Genotype
MGI:4442434

ht5

• Allelic Composition: Mitf^mi-enu198/Mitf⁺
• Genetic Background: involves: 102 * C3H

pigmentation

decreased eye pigmentation ( J:62098 )

• slightly reduced as measured by slit-lamp biomicroscopy

vision/eye

decreased eye pigmentation ( J:62098 )

• slightly reduced as measured by slit-lamp biomicroscopy

Genotype
MGI:4442408

ht6

• Allelic Composition: Mitf^mi-x39/Mitf⁺
• Genetic Background: involves: 102 * C3H

pigmentation

belly spot ( J:62098 )

decreased eye pigmentation ( J:62098 )

• slightly reduced retinal pigmentation measured by slit-lamp biomicroscopy

vision/eye

decreased eye pigmentation ( J:62098 )

• slightly reduced retinal pigmentation measured by slit-lamp biomicroscopy

integument

belly spot ( J:62098 )

Genotype
MGI:3041534

ht7

• Allelic Composition: Mitf^mi-enu5/Mitf⁺
• Genetic Background: involves: 102 * C3H/El

pigmentation

diluted coat color ( J:89276 )

• the dilute pigmented areas fade to light gray/white with age, while normally pigmented areas remain unchanged

white spotting ( J:89276 )

• white spots on the forehead, back and belly

belly spot ( J:89276 )

head spot ( J:89276 )

behavior/neurological

absent pinna reflex ( J:89276 )

• 15 of 16 mice showed no response to a clickbox sound stimulus

skeleton

skeleton phenotype ( J:89276 )

N • normal bone density and no defects were observed by histological examination

integument

diluted coat color ( J:89276 )

• the dilute pigmented areas fade to light gray/white with age, while normally pigmented areas remain unchanged

white spotting ( J:89276 )

• white spots on the forehead, back and belly

belly spot ( J:89276 )

head spot ( J:89276 )

Genotype
MGI:2686998

ht8

• Allelic Composition: Mitf^Rorp/Mitf⁺
• Genetic Background: involves: BALB/cAnN * C3H/HeN

pigmentation

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler ears

abnormal coat/hair pigmentation ( J:75964 )

diluted coat color ( J:75964 )

• mice were described as having a slightly paler coat than wild-type

decreased tail pigmentation ( J:75964 )

• mice were described as having a slightly paler tails

hearing/vestibular/ear

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler ears

limbs/digits/tail

decreased tail pigmentation ( J:75964 )

• mice were described as having a slightly paler tails

vision/eye

abnormal retina morphology ( J:75964 )

• patches of orange were noted on the retina

craniofacial

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler ears

integument

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler ears

abnormal coat/hair pigmentation ( J:75964 )

diluted coat color ( J:75964 )

• mice were described as having a slightly paler coat than wild-type

decreased tail pigmentation ( J:75964 )

• mice were described as having a slightly paler tails

growth/size/body

decreased ear pigmentation ( J:75964 )

• mice were described as having a slightly paler ears

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness		DOID:0090100		J:75964
Tietz syndrome		DOID:0090002	OMIM:103500	J:75964
Waardenburg syndrome type 2A		DOID:0110950	OMIM:193510	J:75964

Genotype
MGI:2686995

ht9

• Allelic Composition: Mitf^Mi-H/Mitf⁺
• Genetic Background: involves: BALB/cAnN * C3H/HeN

pigmentation

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

abnormal coat/hair pigmentation ( J:75964 )

irregular coat pigmentation ( J:75964 )

• described as having pale patches on their coats, most often as a head or belly spot

abnormal foot pigmentation ( J:75964 )

• mice were described as having pale feet

decreased tail pigmentation ( J:75964 )

• mice were described as having pale tails

hearing/vestibular/ear

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

limbs/digits/tail

decreased tail pigmentation ( J:75964 )

• mice were described as having pale tails

vision/eye

abnormal iris morphology ( J:75964 )

• eye examination showed mild iris transillumination

craniofacial

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

integument

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

abnormal coat/hair pigmentation ( J:75964 )

irregular coat pigmentation ( J:75964 )

• described as having pale patches on their coats, most often as a head or belly spot

abnormal foot pigmentation ( J:75964 )

• mice were described as having pale feet

decreased tail pigmentation ( J:75964 )

• mice were described as having pale tails

growth/size/body

decreased ear pigmentation ( J:75964 )

• mice were described as having pale ears

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness		DOID:0090100		J:75964
Tietz syndrome		DOID:0090002	OMIM:103500	J:75964
Waardenburg syndrome type 2A		DOID:0110950	OMIM:193510	J:75964

Genotype
MGI:4356491

ht10

• Allelic Composition: Mitf^mi-tg/Mitf⁺
• Genetic Background: involves: C3H/HeNCrl * C57BL/6NCrl

pigmentation

abnormal melanocyte morphology ( J:15418 )

• melanocyte cultures from the skin produces fewer melanocytes than wild-type cultures and melanocytes exhibit aberrant morphology

Genotype
MGI:6287155

ht11

• Allelic Composition: Mitf^{Tg(Tff3-Tmem207)2Tamo}/Mitf⁺
• Genetic Background: involves: C57BL/6

renal/urinary system

polycystic kidney ( J:244533 )

• progressive development of cysts in the cortex and medulla and in the corticomedullary junction

• cysts appear empty or filled with an acidophilic material or fresh blood

• however, calcified deposits, renal cell carcinoma, thickening and lamination of tubular basement membranes, and glomerular and vascular sclerosis are not seen

kidney inflammation ( J:244533 )

• focal lymphocytic infiltrate is seen in the intervening kidney tissue

increased glomerular capsule space ( J:244533 )

• cystic dilation of the Bowman space around glomeruli is occasionally seen

renal interstitial fibrosis ( J:244533 )

• mild interstitial fibrosis is seen in the intervening kidney tissue

abnormal kidney pelvis morphology ( J:244533 )

• mild expansion of the renal pelvis

renal tubule atrophy ( J:244533 )

• tubular atrophy is seen in the intervening kidney tissue

abnormal loop of Henle morphology ( J:244533 )

• occasionally dilation of the loop of Henle is seen

dilated renal tubule ( J:244533 )

• renal tubules are dilated due to cysts

endocrine/exocrine glands

pancreas cyst ( J:244533 )

• some mice with renal cysts also have pancreatic cysts

immune system

kidney inflammation ( J:244533 )

• focal lymphocytic infiltrate is seen in the intervening kidney tissue

liver/biliary system

liver cyst ( J:244533 )

• some mice with renal cysts also have small liver cysts

growth/size/body

pancreas cyst ( J:244533 )

• some mice with renal cysts also have pancreatic cysts

polycystic kidney ( J:244533 )

• progressive development of cysts in the cortex and medulla and in the corticomedullary junction

• cysts appear empty or filled with an acidophilic material or fresh blood

• however, calcified deposits, renal cell carcinoma, thickening and lamination of tubular basement membranes, and glomerular and vascular sclerosis are not seen

liver cyst ( J:244533 )

• some mice with renal cysts also have small liver cysts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease		DOID:0080322	OMIM:PS173900	J:244533

Genotype
MGI:3630346

ht12

• Allelic Composition: Mitf^Mi-ws/Mitf⁺
• Genetic Background: involves: C57BL/6

pigmentation

abnormal coat/hair pigmentation ( J:13417 )

• white spotting but no coat dilution

white spotting ( J:13417 )

belly spot ( J:13417 )

• diamond shaped pattern is most common

integument

abnormal coat/hair pigmentation ( J:13417 )

• white spotting but no coat dilution

white spotting ( J:13417 )

belly spot ( J:13417 )

• diamond shaped pattern is most common

Genotype
MGI:3813272

ht13

• Allelic Composition: Mitf^Mi-Mee/Mitf⁺
• Genetic Background: involves: C57BL/6 * FVB

pigmentation

abnormal retina pigmentation ( J:140311 )

• heterozygotes have a solid pink retina with small areas of pigment

• by 2 months of age, pigment loss occurs in the center retina, however the periphery is normal and pigment granules can be seen in the outer segments

decreased eye pigmentation ( J:140311 )

• pink eyes

vision/eye

abnormal retina pigmentation ( J:140311 )

• heterozygotes have a solid pink retina with small areas of pigment

• by 2 months of age, pigment loss occurs in the center retina, however the periphery is normal and pigment granules can be seen in the outer segments

decreased eye pigmentation ( J:140311 )

• pink eyes

Genotype
MGI:3044414

ht14

• Allelic Composition: Mitf^Mi-wh/Mitf⁺
• Genetic Background: involves: C57BL * DBA

Mitf^Mi-wh/+

pigmentation

diluted coat color ( J:125080 , J:13058 )

• coat color is gray and somewhat lighter than that of Myo5a^d homozygotes (J:13058)

• coat color darkens slightly with age (J:13058)

white spotting ( J:125080 )

• small spots may occur on the back, but spotting is not found on the head

abnormal foot pigmentation ( J:13058 )

• reduced foot pigmentation

decreased tail pigmentation ( J:13058 )

• reduced tail pigmentation

abnormal iris pigmentation ( J:125080 )

• moderate dilution of the iris pigmentation

decreased eye pigmentation ( J:13058 )

• eyes are a very dark ruby color

limbs/digits/tail

decreased tail pigmentation ( J:13058 )

• reduced tail pigmentation

vision/eye

abnormal iris pigmentation ( J:125080 )

• moderate dilution of the iris pigmentation

decreased eye pigmentation ( J:13058 )

• eyes are a very dark ruby color

integument

diluted coat color ( J:125080 , J:13058 )

• coat color is gray and somewhat lighter than that of Myo5a^d homozygotes (J:13058)

• coat color darkens slightly with age (J:13058)

white spotting ( J:125080 )

• small spots may occur on the back, but spotting is not found on the head

abnormal foot pigmentation ( J:13058 )

• reduced foot pigmentation

decreased tail pigmentation ( J:13058 )

• reduced tail pigmentation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness		DOID:0090100		J:13058
Tietz syndrome		DOID:0090002	OMIM:103500	J:13058
Waardenburg syndrome type 2A		DOID:0110950	OMIM:193510	J:13058

Genotype
MGI:2662973

ht15

• Allelic Composition: Mitf^Mi-Crc/Mitf⁺
• Genetic Background: involves: CBA/CaCrc

pigmentation

variable body spotting ( J:83500 )

• some heterozygotes show white spotting on the belly but not on the head

non-pigmented tail tip ( J:83500 )

abnormal iris pigmentation ( J:83500 )

• iris pigment is reduced

limbs/digits/tail

non-pigmented tail tip ( J:83500 )

vision/eye

abnormal iris pigmentation ( J:83500 )

• iris pigment is reduced

integument

variable body spotting ( J:83500 )

• some heterozygotes show white spotting on the belly but not on the head

non-pigmented tail tip ( J:83500 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ocular albinism with sensorineural deafness		DOID:0090100		J:83500
Tietz syndrome		DOID:0090002	OMIM:103500	J:83500
Waardenburg syndrome type 1		DOID:0110948	OMIM:193500	J:83500

Genotype
MGI:3513138

ht16

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

pigmentation

abnormal coat/hair pigmentation ( J:125080 )

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

white spotting ( J:125080 , 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)

• white regions on tail (J:30758)

belly spot ( J:125080 , J:30758 )

head spot ( J:125080 , J:30758 )

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:125080 , 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)

• white regions on tail (J:30758)

belly spot ( J:125080 , J:30758 )

head spot ( J:125080 , J:30758 )

Genotype
MGI:5449365

cx17

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

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

Genotype
MGI:5449363

cx18

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

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

Genotype
MGI:5449367

cx19

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

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

Genotype
MGI:5316876

cx20

• Allelic Composition: Mitf^mi-vga9/Mitf⁺; Pax6^Sey-Neu/Pax6⁺
• Genetic Background: involves: C57BL/6 * CBA

vision/eye

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E13.5

pigmentation

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E13.5

Genotype
MGI:3762341

cx21

• Allelic Composition: Mitf^Mi-wh/Mitf⁺; Myo5a^d/Myo5a^d
• Genetic Background: involves: C57BL * DBA

pigmentation

diluted coat color ( J:13058 )

• coat color is pastel gray or silver

decreased eye pigmentation ( J:13058 )

• eyes are red

vision/eye

decreased eye pigmentation ( J:13058 )

• eyes are red

integument

diluted coat color ( J:13058 )

• coat color is pastel gray or silver