Mitf^mi-enu198
Chemically induced Allele Detail

Summary

• Symbol: Mitf^mi-enu198
• Name: melanogenesis associated transcription factor; microphthalmia enu 198
• MGI ID: MGI:2148646
• Synonyms: ENU-198
• Gene: Mitf Location: Chr6:97784013-97998310 bp, + strand Genetic Position: Chr6, 45.05 cM
• Alliance: Mitf^mi-enu198 page

Mutation origin

• Strain of Origin: (102 x C3H)F1

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A to G transition at position 749 of the cDNA. This mutation is 15 nucleotides upstream of the exon6/exon7 splice junction and results in both an aspartic acid to glycine substitution at amino acid 207 of the encoded protein and the skipping of exon 6 in the encoded mRNA. (J:62098)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Mitf Mutation: 74 strains or lines available

References

• Original: J:62098 Hallsson JH, et al., Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. Genetics. 2000 May;155(1):291-300
• All: 2 reference(s)