Mitf^tm1Arnh
Targeted Allele Detail

Summary

• Symbol: Mitf^tm1Arnh
• Name: melanogenesis associated transcription factor; targeted mutation 1, Heinz Arnheiter
• MGI ID: MGI:3774153
• Synonyms: Mitf S73A-neo
• Gene: Mitf Location: Chr6:97784013-97998310 bp, + strand Genetic Position: Chr6, 45.05 cM
• Alliance: Mitf^tm1Arnh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:130168
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: This allele resulted from an unplanned intragenic duplication event that occurred during a targeted mutation of the gene. The targeted mutation was within exon 2B to change the coding sequence for amino acid 73 from serine to alanine (S73A) and a silent nucleotide change 10bp upstream to generate a diagnostic restriction site. A floxed neomycin selection cassette was also inserted into intron 2. During recombination, 85,222 bp of wild-type gene sequence duplicated and inserted after exon 4 so that 7 exons (1H through 4) are repeated. Restriction digest and Southern blotting confirmed the presence of the targeted mutation and the duplication event. (J:130168)

Expression

In Structures Affected by this Mutation:

1 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:130168 Bismuth K, et al., An unstable targeted allele of the mouse mitf gene with a high somatic and germline reversion rate. Genetics. 2008 Jan;178(1):259-72
• All: 1 reference(s)