Idh1^tm1Mak
Targeted Allele Detail

Summary

• Symbol: Idh1^tm1Mak
• Name: isocitrate dehydrogenase 1 (NADP+), soluble; targeted mutation 1, Tak Mak
• MGI ID: MGI:5438251
• Synonyms: Idh1^LSL, Idh1^LSL-R132H, LSL-Idh1R132H
• Gene: Idh1 Location: Chr1:65197775-65225638 bp, - strand Genetic Position: Chr1, 32.91 cM
• Alliance: Idh1^tm1Mak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:186700
• Parent Cell Line: E14K (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Conditional ready, Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Arginine codon 132 (CGA) in exon 3 was changed to histidine (CAC) (p.R132H) and a loxP site flanked STOP cassette (puromycin resistance gene, splice acceptor sequence and four copies of SV40 poly(A) signal sequence) was inserted into intron 2. This is a knockout allele and only after Cre-mediated removal of the STOP cassette will it express the mutated transcript and peptide. (J:186700)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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 Idh1 Mutation: 42 strains or lines available

References

• Original: J:186700 Sasaki M, et al., IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics. Nature. 2012 Aug 30;488(7413):656-9
• All: 9 reference(s)