Primary Identifier | MGI:6718877 | Allele Type | Targeted |
Attribute String | Conditional ready, Null/knockout | Gene | Prrt2 |
Transmission | Germline | Strain of Origin | Not Specified |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. The presence of the PGK-neo and STOP cassette generates a null allele. Western blot analysis of cerebellum lysates confirmed absence of protein. |