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| Nomenclature |
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Symbol:
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Ptstm1Thny
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Name:
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6-pyruvoyl-tetrahydropterin synthase;
targeted mutation 1, Beat Thony
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MGI ID: |
MGI:2669828 |
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Synonyms: |
Pts- |
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Gene:
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Pts
Location:
Chr9:50521618-50528641 bp, - strand
Genetic Position: Chr9,
27.73 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:84533
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Pts Mutation:
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3 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
