Ppp3cb^m5Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ppp3cb^m5Btlr
• 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: Ppp3cb^m5Btlr 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 details: ENU-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

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: 67 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)