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Allele Detail
Symbol: MitfMi
Name: melanogenesis associated transcription factor; microphthalmia
MGI ID: MGI:1856085
Synonyms: m, mi
Gene: Mitf  Location: Chr6:97784013-97998310 bp, + strand  Genetic Position: Chr6, 45.05 cM
MitfMi/MitfMi and control

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

Strain of Origin:  Not Specified
Allele Type:    Other
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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 388 assay results
In Structures Affected by this Mutation: 24 anatomical structures
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:  65 strains or lines available
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).

Original:  J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80:220-246
All:  74 reference(s)

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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last database update
MGI 6.17
The Jackson Laboratory