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Targeted Allele Detail
Symbol: Ptstm1Thny
Name: 6-pyruvoyl-tetrahydropterin synthase; targeted mutation 1, Beat Thony
MGI ID: MGI:2669828
Synonyms: Pts-
Gene: Pts  Location: Chr9:50521617-50528641 bp, - strand  Genetic Position: Chr9, 27.73 cM
Germline Transmission:  Earliest citation of germline transmission: J:84533
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsSequence encompassing a portion of exon 2 and all of exons 3 and 4 was replaced with a cassette containing lacZ and neo. Though a fusion protein consisting of 35 endogenous amino terminal residues and lacZ was expected, endogenous activity was undetected in homozygous mutant neonates. (J:84533)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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 Pts Mutation:  6 strains or lines available
Original:  J:84533 Elzaouk L, et al., Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. J Biol Chem. 2003 Jul 25;278(30):28303-11
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
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