Ppp1r3a^tm2Adpr
Targeted Allele Detail

Summary

• Symbol: Ppp1r3a^tm2Adpr
• Name: protein phosphatase 1, regulatory subunit 3A; targeted mutation 2, Anna A DePaoli-Roach
• MGI ID: MGI:3785748
• Synonyms: RGL kin
• Gene: Ppp1r3a Location: Chr6:14713976-14755273 bp, - strand Genetic Position: Chr6, 6.31 cM, cytoband A2
• Alliance: Ppp1r3a^tm2Adpr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:134157
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: A floxed neo cassette was inserted into intron 3 and exon 4 was replaced with one which contained codons for 6 altered amino acids followed by a premature stop codon as is seen in a human frameshift mutation. Transient cre expression in ES cells was used to remove the neo cassette. Western blot analysis of skeletal muscle confirmed the expression of a truncated protein consisting of 634 amino acid residues. (J:134157)

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 Ppp1r3a Mutation: 57 strains or lines available

References

• Original: J:134157 Savage DB, et al., A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice. PLoS Med. 2008 Jan 29;5(1):e27
• All: 1 reference(s)