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Ppp3cbm5Btlr
Chemically induced Allele Detail
Summary
Symbol: Ppp3cbm5Btlr
Name: protein phosphatase 3, catalytic subunit, beta isoform; mutation 5, Bruce Beutler
MGI ID: MGI:6286021
Synonyms: justinian
Gene: Ppp3cb  Location: Chr14:20549432-20596641 bp, - strand  Genetic Position: Chr14, 11.53 cM, cytoband B
Alliance: Ppp3cbm5Btlr 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 C transition at base pair 20,508,543 (v38) on chromosome 14, or base pair 38,031 in the GenBank genomic region NC_000080 encoding Ppp3cb. The mutation corresponds to residue 1,450 in the cDNA sequence ENSMUST00000022355.10 within exon 12 of 12 total exons. The mutation results in a cysteine to arginine substitution at position 484 (C484R) in an alternative 497-amino acid isoform of CnAbeta. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is within intron 12 (81-base pairs from exon 12) in the canonical isoform of Ppp3cb; the mutation is not predicted to affect splicing of the transcript. (J:272839)
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 Ppp3cb Mutation:  66 strains or lines available
Notes
https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3950
References
Original:  J:272839 Zhong X, et al., Mutagenetix entry for justinian. MGI Direct Data Submission. 2019;
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
04/16/2024
MGI 6.23
The Jackson Laboratory