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| Nomenclature |
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Symbol:
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Pnpe
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Name:
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purine-nucleoside phosphorylase;
NP-1E
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MGI ID: |
MGI:3777967 |
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Synonyms: |
Np-1e |
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Gene:
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Pnp
Location:
Chr14:50944302-50953412 bp, + strand
Genetic Position: Chr14,
26.31 cM, cytoband B-C1
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: This 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)
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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 Pnp Mutation:
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9 strains or lines available |
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| References |
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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
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All: |
5 reference(s)
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Analysis Tools
