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MitfMi
Allele Detail
Nomenclature
Symbol: MitfMi
Name: microphthalmia-associated transcription factor; microphthalmia
MGI ID: MGI:1856085
Synonyms: m, mi
Gene: Mitf  Location: Chr6:97807058-98021349 bp, + strand  Genetic Position: Chr6, 45.05 cM
MitfMi/MitfMi and control

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Not Specified
Mutation:    Intragenic deletion
 
Mutation details
Inheritance:    Semidominant
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 379 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Mitf Mutation:  41 strains or lines available
Notes
This mutation produces an osteopetrosis that resembles human osteopetrosis more than that produced by Ctsfop. MitfMi mutant mice have normal levels of M-CSF and its receptor. Osteoplasts are produced, but are unable to function normally in bone resorption (J:22788).

Combination heterozygotes of MitfMi-wh/MitfMi show some interallelic complementation in that the heterozygote of the two alleles is more nearly normal than either homozygote (J:12967). MitfMi-Or/MitfMi mice resemble homozygous MitfMi-Or (J:15060).

References
Original:  J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80:220-246
All:  67 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory