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Allele : Pkhd1<tm1Som> polycystic kidney and hepatic disease 1; targeted mutation 1, Stefan Somlo

Primary Identifier  MGI:3774015 Allele Type  Targeted
Attribute String  Hypomorph Gene  Pkhd1
Transmission  Germline Strain of Origin  129/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  A 0.8 kb fragment, which contains part of exon 4 that encodes the terminal 46 amino acids and part of intron 4, was replaced with a neo cassette. The presence of two truncated transcripts (one lacking part of exon 4 and exon 5, and the other lacking all of exon 4) was confirmd by RT-PCR analysis on kindey and liver extracts.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • Pkhd1<del4>,
  • Pkhd1<del4>
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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

7 Publication categories