Mitf<Mi> Allele Detail MGI Mouse (MGI:1856085)

Mitf^Mi
Allele Detail

Summary

Symbol:	Mitf^Mi
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
Alliance:	Mitf^Mi page

Mitf^Mi/Mitf^Mi and control

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

Mutation
origin

Strain of Origin:

Not Specified

Mutation
description

Allele Type:		Other
Mutation:		Intragenic deletion
		Mutation details: This 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	411 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	23 anatomical structure(s)

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:	74 strains or lines available

Notes

This mutation produces an osteopetrosis that resembles human osteopetrosis more than that produced by Ctsf^op. Mitf^Mi 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 Mitf^Mi-wh/Mitf^Mi show some interallelic complementation in that the heterozygote of the two alleles is more nearly normal than either homozygote (J:12967). Mitf^Mi-Or/Mitf^Mi mice resemble homozygous Mitf^Mi-Or (J:15060).

References

Original:	J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80(1):220-246
All:	76 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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