Mitf^mi-sp
Spontaneous Allele Detail

Summary

• Symbol: Mitf^mi-sp
• Name: melanogenesis associated transcription factor; microphthalmia spotted
• MGI ID: MGI:1856092
• Synonyms: MITF^sp, sp
• Gene: Mitf Location: Chr6:97784013-97998310 bp, + strand Genetic Position: Chr6, 45.05 cM
• Alliance: Mitf^mi-sp page

Mitf^Mi-wh/Mitf^mi-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 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)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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: 74 strains or lines available

Notes

Homozygotes and Mitf^mi-sp/+ mice are not detectably different from wild-type mice in color but have slightly less tyrosinase activity in the skin. Mitf^Mi-wh/Mitf^mi-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. Mitf^mi/Mitf^mi-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 Mitf^mi-sp/+ mice are not detectably different from wild-type mice in color but have slightly less tyrosinase activity in the skin. Mitf^Mi-wh/Mitf^mi-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. Mitf^mi/Mitf^mi-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^sp). Mouse News Lett. 1962;26:35
• All: 10 reference(s)