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Allele : Pkd1<tm1Jcal> polycystin 1, transient receptor potential channel interacting; targeted mutation 1, James Calvet

Primary Identifier  MGI:6258383 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 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<NEO DeltaL>,
  • Pkd1<NEO DeltaL>
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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