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| Nomenclature |
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Symbol:
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Mitfmi-sp
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Name:
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microphthalmia-associated transcription factor;
microphthalmia spotted
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MGI ID: |
MGI:1856092 |
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Synonyms: |
MITFsp, sp |
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Gene:
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Mitf
Location:
Chr6:97807058-98021349 bp, + strand
Genetic Position: Chr6,
45.05 cM
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MitfMi-wh/Mitfmi-sp
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: Sequencing studies reveal that this allele comprises the insertion of an extra cytosine residue into splicer acceptor 2, an 18 bp alternatively spliced exon. This exon is missing in transcripts encoded by this allele. The extra C residue is thought to either reduce use of the associated splice acceptor site or result in a frameshift mutation that creates a 19 bp rather than the expected 18 bp exon. (J:21366)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Homozygotes and Mitfmi-sp/+ mice are not detectably different from wild-type mice in color but have slightly less tyrosinase activity in the skin. MitfMi-wh/Mitfmi-sp mice are light yellow with dorsal and ventral white spots and pigmented eyes. Medullary pigment granules in the hair show much clumping and are yellowish brown. Mitfmi/Mitfmi-sp mice are white with some pigmentation in the eyes and some flecks of pigmented hair on the back. All these combinations are viable and fertile (J:12946). Homozygotes and Mitfmi-sp/+ mice are not detectably different from wild-type mice in color but have slightly less tyrosinase activity in the skin. MitfMi-wh/Mitfmi-sp mice are light yellow with dorsal and ventral white spots and pigmented eyes. Medullary pigment granules in the hair show much clumping and are yellowish brown. Mitfmi/Mitfmi-sp mice are white with some pigmentation in the eyes and some flecks of pigmented hair on the back. All these combinations are viable and fertile (J:12946).
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| References |
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Original: |
J:35685
Wolfe HG,
"New allele at the mi locus (mi<sp>)"
Mouse News Lett 1962;26():35
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All: |
8 reference(s)
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Analysis Tools
