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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 detailsThis mutation was identified during an irradiation experiment, but it is not known whether it was induced in the treated male or spontaneously arose in an untreated mate. RT-PCR analysis identified a 3 nucleotide deletion in the transcript that results in a loss of one of four conserved arginine residues in the basic domain of the encoded protein. This mutation is predicted to affect the ability of the protein to bind DNA. (J:13562)
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:  44 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
07/21/2015
MGI 5.22
The Jackson Laboratory