Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Ptstm1Ich
Name:	6-pyruvoyl-tetrahydropterin synthase; targeted mutation 1, Hiroshi Ichinose
MGI ID:	MGI:2669870
Gene:	Pts  Location: Chr9:50432917-50440017 bp, - strand  Genetic Position: Chr9, 27.73 cM
Alliance:	Ptstm1Ich page

Germline Transmission:	Earliest citation of germline transmission: J:84764
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exon 1 was replaced with a PGK-neo cassette inserted by homologous recombination. Normal transcript was undetected by Northern blot analysis of homozygous mutant liver and brain tissue. (J:84764)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pts Mutation:	11 strains or lines available

Original:	J:84764 Sumi-Ichinose C, et al., Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice. J Biol Chem. 2001 Nov 2;276(44):41150-60
All:	4 reference(s)