Prrt2^{tm1.1(PRRT2*)Xjl}
Targeted Allele Detail

Summary

• Symbol: Prrt2^{tm1.1(PRRT2*)Xjl}
• Name: proline-rich transmembrane protein 2; targeted mutation 1.1, Xiao-Jiang Li
• MGI ID: MGI:6718878
• Synonyms: PRRT2 KI
• Gene: Prrt2 Location: Chr7:126616703-126620383 bp, - strand Genetic Position: Chr7, 69.28 cM
• Alliance: Prrt2^{tm1.1(PRRT2*)Xjl} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:306987
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A PGK-neo 3x stop cassette flanked by loxP sites was inserted upstream of the initiation codon. From initiation codon to 103 bp in intron 2 was replaced by the corresponding human PRRT2 cDNA with the c.649_650InsC mutation. This is a mutation found in patients with paroxysmal kinesigenic dyskinesia. Cre-mediated recombination removed the PGK-neo. Western blotting of brain tissues does not detect truncated protein in homozygotes. qPCR shows that level of truncated mRNA is decreased and the mRNA is unstable and shows a shortened half-life. (J:306987)

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 Prrt2 Mutation: 17 strains or lines available

References

• Original: J:306987 Pan Y, et al., PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia. Biochem Biophys Res Commun. 2020 Feb 12;522(3):553-559
• All: 1 reference(s)