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| Nomenclature |
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Symbol:
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MitfMi
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Name:
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microphthalmia-associated transcription factor;
microphthalmia
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MGI ID: |
MGI:1856085 |
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Synonyms: |
m, mi |
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Gene:
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Mitf
Location:
Chr6:97757052-97971343 bp, + strand
Genetic Position: Chr6,
40.0 cM
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MitfMi/MitfMi and control
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: |
Not Specified |
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Mutation: |
Intragenic deletion |
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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) |
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Inheritance: |
Semidominant |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| Expression |
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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Disease
models
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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).
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| References |
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Original: |
J:208
Hertwig P,
"Neue Mutationen und Koppelungsgruppen bei der Hausmaus"
Z Indukt Abstamm Vererbungsl 1942;80():220-246
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All: |
62 reference(s)
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