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Tph2tm1Mca
Targeted Allele Detail
Nomenclature
Symbol: Tph2tm1Mca
Name: tryptophan hydroxylase 2; targeted mutation 1, Marc G Caron
MGI ID: MGI:3774541
Synonyms: R439H Tph2, Tph2-KI
Gene: Tph2  Location: Chr10:115078641-115185022 bp, - strand  Genetic Position: Chr10, 63.51 cM
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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Tph2 Mutation:  26 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:  6 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
06/04/2019
MGI 6.14
The Jackson Laboratory