Mitf^mi-enu122
Chemically induced Allele Detail

Summary

• Symbol: Mitf^mi-enu122
• Name: melanogenesis associated transcription factor; microphthalmia enu 122
• MGI ID: MGI:1857751
• Synonyms: ENU-122
• Gene: Mitf Location: Chr6:97784013-97998310 bp, + strand Genetic Position: Chr6, 45.05 cM
• Alliance: Mitf^mi-enu122 page

Mitf^mi-enu122/Mitf^mi-enu122 mouse

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

Mutation origin

• Strain of Origin: (102 x C3H)F1

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A to T transversion at position 799 of the cDNA, leading to an isoleucine to phenylalanine substitution at conserved amino acid 224 in the HLH region of the encoded protein. (J:46254)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 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:46254 Steingrimsson E, et al., Mitfmi-enu122 is a missense mutation in the HLH dimerization domain. Mamm Genome. 1998 Mar;9(3):250-2
• All: 2 reference(s)