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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mitfmi-ew
eyeless white
MGI:1856094
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mitfmi-ew/Mitfmi-ew involves: C57BL/6Bn * NAW MGI:4455020
ht2
Mitfmi-ew/Mitftm1Arnh involves: 129S1/Sv * C57BL/6 * NAW MGI:3774179
cx3
Mitfmi-ew/Mitfmi-ew
Tfe3tm1Est/Tfe3tm1Est
either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW) MGI:3044416
cx4
Mitfmi-ew/Mitfmi-ew
Tfe3tm1Est/Tfe3+
either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW) MGI:4455029


Genotype
MGI:4455020
hm1
Allelic
Composition
Mitfmi-ew/Mitfmi-ew
Genetic
Background
involves: C57BL/6Bn * NAW
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-ew mutation (1 available); any Mitf mutation (72 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation

skeleton
• 3 week old bones show signs of hyperostosis, with extensions of bony trabeculae that reach further into the bone marrow cavity than in wild-type mice
• mild osteopetrosis

vision/eye
• severely microphthalmic

integument

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Camurati-Engelmann disease DOID:4997 OMIM:131300
OMIM:606631
J:89821




Genotype
MGI:3774179
ht2
Allelic
Composition
Mitfmi-ew/Mitftm1Arnh
Genetic
Background
involves: 129S1/Sv * C57BL/6 * NAW
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-ew mutation (1 available); any Mitf mutation (72 available)
Mitftm1Arnh mutation (0 available); any Mitf mutation (72 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 unlike 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:3044416
cx3
Allelic
Composition
Mitfmi-ew/Mitfmi-ew
Tfe3tm1Est/Tfe3tm1Est
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-ew mutation (1 available); any Mitf mutation (72 available)
Tfe3tm1Est mutation (1 available); any Tfe3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 3 weeks of birth

pigmentation
• mice have a white coat; similar to Mitfmi-ew/mi-ew mice

craniofacial

growth/size/body

skeleton
• small osteoclasts
• severe

vision/eye
• similar to Mitfmi-ew/mi-ew mice

hematopoietic system
• small osteoclasts

immune system
• small osteoclasts

integument
• mice have a white coat; similar to Mitfmi-ew/mi-ew mice




Genotype
MGI:4455029
cx4
Allelic
Composition
Mitfmi-ew/Mitfmi-ew
Tfe3tm1Est/Tfe3+
Genetic
Background
either: (involves: 129/Sv * 129S1/Sv * C57BL/6Bn * NAW) or (involves: 129S1/Sv * C57BL/6Bn * C57BL/6J * NAW)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mitfmi-ew mutation (1 available); any Mitf mutation (72 available)
Tfe3tm1Est mutation (1 available); any Tfe3 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation

skeleton
• osteopetrosis is more severe than in Mitfmi-ew homozygotes but less severe than in double homozygotes

vision/eye

integument





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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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory