Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Mitftm1Arnh
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:	Mitftm1Arnh page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	72 strains or lines available

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)