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Mitftm7.1Arnh
Targeted Allele Detail
Summary
Symbol: Mitftm7.1Arnh
Name: melanogenesis associated transcription factor; targeted mutation 7.1,
MGI ID: MGI:5316513
Synonyms: Mitfmi-S73AdeltaNeo
Gene: Mitf  Location: Chr6:97784013-97998310 bp, + strand  Genetic Position: Chr6, 45.05 cM
Alliance: Mitftm7.1Arnh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:182722
Parent Cell Line:  LC3 (ES Cell)
Strain of Origin:  (C57BL/6N x 129S6/SvEvTac)F1
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsThe 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. The selection cassette was subsequently removed by cre excision. (J:182722)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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:  72 strains or lines available
References
Original:  J:182722 Debbache J, et al., In vivo role of alternative splicing and serine phosphorylation of the microphthalmia-associated transcription factor. Genetics. 2012 May;191(1):133-44
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory