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Idh1tm3Mak
Targeted Allele Detail
Summary
Symbol: Idh1tm3Mak
Name: isocitrate dehydrogenase 1 (NADP+), soluble; targeted mutation 3, Tak Mak
MGI ID: MGI:5635887
Synonyms: LSL-R132Q
Gene: Idh1  Location: Chr1:65197775-65225638 bp, - strand  Genetic Position: Chr1, 32.91 cM
Alliance: Idh1tm3Mak page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:220318
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA floxed neo/STOP cassette was inserted upstream of a modified exon 4 in which nucleotide substitution results in the amino acid substitution of glutamine for arginine at position 132 (R132Q). (J:220318)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 6 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 Idh1 Mutation:  44 strains or lines available
References
Original:  J:220318 Hirata M, et al., Mutant IDH is sufficient to initiate enchondromatosis in mice. Proc Natl Acad Sci U S A. 2015 Mar 3;112(9):2829-34
All:  3 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
12/10/2024
MGI 6.24
The Jackson Laboratory