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Allele : Pkhd1<em1Mrug> polycystic kidney and hepatic disease 1; endonuclease-mediated mutation 1, Michal Mrug

Primary Identifier  MGI:6388657 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Pkhd1
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated a 7 bp deletion (c.1926_1932delTGATTGG) in exon 20 resulting in a truncating mutation at the cysteine in position 642 (C642*). RT-PCR showed absence of the expected 235-bp product in homozygotes.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Pkhd1<C642*>,
  • Pkhd1<C642*>
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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