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Allele : Prrt2<tm1(PRRT2*)Xjl> proline-rich transmembrane protein 2; targeted mutation 1, Xiao-Jiang Li

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.
  • mutations:
  • Insertion
  • synonyms:
  • Prrt2 KO,
  • Prrt2 KO
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele