Tph2^tm1Mca

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Species

Mus musculus

Symbol

Tph2^tm1Mca

Category

allele

Allele of gene

Tph2

Transgenic Constructs

None

Synonyms

• R439H Tph2
• Tph2-KI

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations