About   Help   FAQ
Mitftm5.1Arnh
Targeted Allele Detail
Summary
Symbol: Mitftm5.1Arnh
Name: melanogenesis associated transcription factor; targeted mutation 5.1, Heinz Arnheiter
MGI ID: MGI:5050703
Synonyms: Mitfmi-S-S73AdeltaNeo
Gene: Mitf  Location: Chr6:97784013-97998310 bp, + strand  Genetic Position: Chr6, 45.05 cM
Alliance: Mitftm5.1Arnh 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
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe targeted mutation modified the splice donor for exon 2B so that it became non functional but did not modify any of the encoded amino acids. In addition, codon 73 was modified to encode for Ala. A floxed neomycin selection cassette was inserted as well. The selection cassette was subsequently removed by cre excision. This allele forcibly includes exon 2B as it can no longer be alternatively spliced. (J:182722)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
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: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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory