Col1a1^{tm3(CAG-IDH2*R140Q)Kkw}
Targeted Allele Detail

Summary

• Symbol: Col1a1^{tm3(CAG-IDH2*R140Q)Kkw}
• Name: collagen, type I, alpha 1; targeted mutation 3, Kwok-Kin Wong
• MGI ID: MGI:5582192
• Synonyms: Col1a1^{tm1(CAG-IDH2*R140Q)Kkw}, IDH2^R140Q
• Gene: Col1a1 Location: Chr11:94827050-94843868 bp, + strand Genetic Position: Chr11, 59.01 cM, cytoband D
• Alliance: Col1a1^{tm3(CAG-IDH2*R140Q)Kkw} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:209629
• Parent Cell Line: v6.5 (ES Cell)
• Strain of Origin: (C57BL/6 x 129S4/SvJae)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Col1a1^{tm3(CAG-IDH2*R140Q)Kkw} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  IDH2 (3418)

  Idh2	(MGI:96414)

• Mutation details: The construct was designed to insert (from 5' to 3') an FRT site, the chicken beta-actin promoter (CAG), a loxP flanked stop cassette, the human IDH2 with the R140Q mutation, a PGK hygro-polyA sequence, and a second FRT site into the mouse collagen A1 locus. (J:209629)

Disease models

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 Col1a1 Mutation: 160 strains or lines available

References

• Original: J:209629 Akbay EA, et al., D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice. Genes Dev. 2014 Mar 1;28(5):479-90
• All: 1 reference(s)