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Pnptm1Cmr
Targeted Allele Detail
Summary
Symbol: Pnptm1Cmr
Name: purine-nucleoside phosphorylase; targeted mutation 1, Chaim M Roifman
MGI ID: MGI:2386195
Synonyms: PNP-
Gene: Pnp  Location: Chr14:51181760-51190869 bp, + strand  Genetic Position: Chr14, 26.31 cM, cytoband B-C1
Alliance: Pnptm1Cmr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:62870
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 1.2 kb region of the gene spanning exons 3 and 4, including the catalytic site, was replaced with a PGK-neo cassette via homologous recombination. Homozygous mutant animals were identified and confirmed by Southern blot analysis. (J:62870)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Pnp Mutation:  29 strains or lines available
Notes
ES cell line = "E129/Cj."
References
Original:  J:62870 Arpaia E, et al., Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice. J Exp Med. 2000 Jun 19;191(12):2197-208
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory