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Prrt2tm1.1(PRRT2*)Xjl
Targeted Allele Detail
Summary
Symbol: Prrt2tm1.1(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: Prrt2tm1.1(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 detailsA 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)

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
05/28/2024
MGI 6.13
The Jackson Laboratory