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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Mitfmi-vit
vitiligo
MGI:1856095
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Mitfmi-vit/Mitfmi-vit C57BL/6J-Mitfmi-vit MGI:3720984
hm2
 		Mitfmi-vit/Mitfmi-vit C57BL/6J-Mitfmi-vit/J MGI:3720986
cx3
 		Mitfmi-vit/Mitfmi-vit
Tg(KRT14-Edn3)1Takk/? 		involves: C57BL/6 * C57BL/6J * DBA/2 MGI:3720190


Genotype
MGI:3720984
hm1
Allelic
Composition		 Mitfmi-vit/Mitfmi-vit
Genetic
Background		 C57BL/6J-Mitfmi-vit
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-vit mutation (1 available); any Mitf mutation (74 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
absent coat pigmentation ( J:14091 , J:102101 )
• from 8 weeks of age on, the number of white hairs inceases with successive molts (J:14091)
• by 6- 12 months of age, mice are nearly entirely white (J:102101)
diluted coat color ( J:14091 )
• slightly less intense than nonagouti of C57BL/6J
white spotting ( J:14091 )
• located on back,neck and entire abdomen
abnormal retina pigment epithelium morphology ( J:33910 )
• dorsally, abnormally multilayered at E12 to E13
• mosaic for hypopigmented and hyperpigmented cells
• cells of postnatal mice have abnormally short, compact, apical microvilli without melanosomes or connection to rod outer segments
abnormal retina pigmentation ( J:33910 )
• by 2 years of age, residual neural retina is invaded by heavily pigmented cells
abnormal melanocyte morphology ( J:102101 )
• degenerative changes are prevalent

immune system

growth/size/body
fetal growth retardation ( J:33910 )

nervous system
absent retina cone cells ( J:33910 )
• by 2 years of age, all cone cells are gone
• results are similar to early function abnormalities in human retinitis pigmentosa
absent retina rod cells ( J:33910 )
• by 2 years of age, all rod cells are gone
retina photoreceptor degeneration ( J:33910 )
• cell degeneration follows a radial gradient, more severe centrally and more advanced superiorly
• from 60 to 500 days of age photoreceptor nuclei progressively decrease in number, shedding into the subretinal space

vision/eye
absent retina cone cells ( J:33910 )
• by 2 years of age, all cone cells are gone
• results are similar to early function abnormalities in human retinitis pigmentosa
absent retina rod cells ( J:33910 )
• by 2 years of age, all rod cells are gone
retina photoreceptor degeneration ( J:33910 )
• cell degeneration follows a radial gradient, more severe centrally and more advanced superiorly
• from 60 to 500 days of age photoreceptor nuclei progressively decrease in number, shedding into the subretinal space
abnormal retina pigment epithelium morphology ( J:33910 )
• dorsally, abnormally multilayered at E12 to E13
• mosaic for hypopigmented and hyperpigmented cells
• cells of postnatal mice have abnormally short, compact, apical microvilli without melanosomes or connection to rod outer segments
abnormal retina pigmentation ( J:33910 )
• by 2 years of age, residual neural retina is invaded by heavily pigmented cells
retina detachment ( J:33910 )
• more prominent than in most other retinal degenerations and begins as rod outer segments degenerate
abnormal rod electrophysiology ( J:33910 )
• electroretinograms show a significant reduction of rod dominated maximum ERG a-wave and b-wave amplitude as early as 2 weeks of age

integument
absent coat pigmentation ( J:14091 , J:102101 )
• from 8 weeks of age on, the number of white hairs inceases with successive molts (J:14091)
• by 6- 12 months of age, mice are nearly entirely white (J:102101)
diluted coat color ( J:14091 )
• slightly less intense than nonagouti of C57BL/6J
white spotting ( J:14091 )
• located on back,neck and entire abdomen
abnormal hair follicle morphology ( J:102101 )
• extracellular granular material found in amelanotic hair follicles




Genotype
MGI:3720986
hm2
Allelic
Composition		 Mitfmi-vit/Mitfmi-vit
Genetic
Background		 C57BL/6J-Mitfmi-vit/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-vit mutation (1 available); any Mitf mutation (74 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
diluted coat color ( J:100658 )
• at 2 months of age mice have lighter pigment
abnormal iris pigmentation ( J:141035 )
• iris pigmentation is dispersed

vision/eye
abnormal iris pigmentation ( J:141035 )
• iris pigmentation is dispersed

integument
diluted coat color ( J:100658 )
• at 2 months of age mice have lighter pigment




Genotype
MGI:3720190
cx3
Allelic
Composition		 Mitfmi-vit/Mitfmi-vit
Tg(KRT14-Edn3)1Takk/?
Genetic
Background		 involves: C57BL/6 * C57BL/6J * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-vit mutation (1 available); any Mitf mutation (74 available)
Tg(KRT14-Edn3)1Takk mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
abnormal coat/hair pigmentation ( J:100658 )
• at 6 months fo age, mice lose pigmentation of dorsal hair
white spotting ( J:100658 )
• mice develop a ventral white spot similar to in Mitfmi-vit homozygotes
abnormal melanocyte morphology ( J:100658 )
• mice have an increased number of melanocytes but not as much as seen in Tg(KRT14-Edn3)1Takk mice
• melanocyte numbers decrease with age and mostly gone by 6 months

integument
abnormal coat/hair pigmentation ( J:100658 )
• at 6 months fo age, mice lose pigmentation of dorsal hair
white spotting ( J:100658 )
• mice develop a ventral white spot similar to in Mitfmi-vit homozygotes




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory