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Mitfmi-sp
Spontaneous Allele Detail
Nomenclature
Symbol: Mitfmi-sp
Name: microphthalmia-associated transcription factor; microphthalmia spotted
MGI ID: MGI:1856092
Synonyms: MITFsp, sp
Gene: Mitf  Location: Chr6:97807058-98021349 bp, + strand  Genetic Position: Chr6, 45.05 cM
MitfMi-wh/Mitfmi-sp

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsSequencing 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)
Inheritance:    Recessive
Phenotypes
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 10 strains available      Cell Lines: 0 lines available
Carrying any Mitf Mutation:  44 strains or lines available
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).

References
Original:  J:35685 Wolfe HG, New allele at the mi locus (mi). Mouse News Lett. 1962;26:35
All:  8 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory