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Allele : Pkd1<tm1.1Jcal> polycystin 1, transient receptor potential channel interacting; targeted mutation 1.1, James P Calvet

Primary Identifier  MGI:6258385 Allele Type  Targeted
Attribute String  Humanized sequence, Null/knockout Gene  Pkd1
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  The codon for leucine 4122 in exon 45 was deleted and a loxP site flanked neomycin resistance gene cassette was inserted into intron 45. The neo cassette was removed through subsequent cre-mediated recombination. The deletion mimics the p.Leu4132Del mutation in some human autosomal dominant polycystic kidney disease (ADPKD) patients. The mutation is in the crucial G protein binding domain and creates a functional knock-out.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Pkd1<DeltaL>,
  • Pkd1<DeltaL>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories