Tph2^tm1Mca
Targeted Allele Detail

Summary

• Symbol: Tph2^tm1Mca
• Name: tryptophan hydroxylase 2; targeted mutation 1, Marc G Caron
• MGI ID: MGI:3774541
• Synonyms: R439H Tph2, Tph2-KI
• Gene: Tph2 Location: Chr10:114914546-115020927 bp, - strand Genetic Position: Chr10, 63.51 cM
• Alliance: Tph2^tm1Mca page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:131619
• Parent Cell Line: CMTI-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 10 and 11 were replaced with a floxed neo cassette and another copy of exon 10 and 11 with a nucleotide transition of G to A at position 1449 within exon 11. This transition results in an amino acid substitution of a histidine for an arginine at position 439 (R439H). The neo cassette was removed by transient cre-mediated recombination in ES cells. This allele was created to mimic the R441H mutation identified in humans that leads to 80% reduced enzymatic activity in PC12 cells. (J:131619)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Tph2 Mutation: 41 strains or lines available

References

• Original: J:131619 Beaulieu JM, et al., Role of GSK3 beta in behavioral abnormalities induced by serotonin deficiency. Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1333-8
• All: 8 reference(s)