Pts^tm1Thny
Targeted Allele Detail

Summary

• Symbol: Pts^tm1Thny
• Name: 6-pyruvoyl-tetrahydropterin synthase; targeted mutation 1, Beat Thony
• MGI ID: MGI:2669828
• Synonyms: Pts^-
• Gene: Pts Location: Chr9:50432917-50440017 bp, - strand Genetic Position: Chr9, 27.73 cM
• Alliance: Pts^tm1Thny page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:84533
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Sequence 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)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• 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: 12 strains or lines available

References

• 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)