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Pnpe
Chemically induced Allele Detail
Summary
Symbol: Pnpe
Name: purine-nucleoside phosphorylase; NP-1E
MGI ID: MGI:3777967
Synonyms: Np-1e
Gene: Pnp  Location: Chr14:51181760-51190869 bp, + strand  Genetic Position: Chr14, 26.31 cM, cytoband B-C1
Alliance: Pnpe page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis allele was identified in the progeny of a cross between ENU mutagenized C57BL/6J males and C3H/HeHa females. A T to A transversion occurred at nuleotide 260 causing an M87K amino acid substitution in the protein. (J:491, J:23354, J:39328)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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
References
Original:  J:23354 Mably ER, et al., Genetic deficiency of purine nucleoside phosphorylase in the mouse. Characterization of partially and severely enzyme deficient mutants. Genome. 1989 Dec;32(6):1026-32
All:  6 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
11/12/2024
MGI 6.24
The Jackson Laboratory