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Pnpm2Btlr
Chemically induced Allele Detail
Summary
Symbol: Pnpm2Btlr
Name: purine-nucleoside phosphorylase; mutation 2, Bruce Beutler
MGI ID: MGI:6199974
Synonyms: Porch2
Gene: Pnp  Location: Chr14:51181760-51190869 bp, + strand  Genetic Position: Chr14, 26.31 cM, cytoband B-C1
Alliance: Pnpm2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced T to A transversion at base pair 50,951,506 (v38) on chromosome 14, or base pair 7,204 in the GenBank genomic region NC_000080 encoding Pnp. The mutation corresponds to residue 1,035 in the mRNA sequence NM_013632 within exon 5 of 6 total exons. The mutation results in substitution of leucine 252 for a premature stop codon (L252*) in the PNP protein. (J:265150)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:265150 Zhong X, et al., Mutagenetix entry for Porch2. MGI Direct Data Submission. 2018;
All:  1 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
12/10/2024
MGI 6.24
The Jackson Laboratory