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Allele : Pkhd1<tm1.1Ggg> polycystic kidney and hepatic disease 1; targeted mutation 1.1, Gregory G Germino

Primary Identifier  MGI:3759215 Allele Type  Targeted
Attribute String  Hypomorph Gene  Pkhd1
Transmission  Germline Strain of Origin  129/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 3 and 4 wwere removed by cre-mediated recombination using the B6.129S4-Meox2tm1(cre)Sor line. The protein product is predicted to include the signal sequence but lack an adjacent 123 amino acid fragment of the extracellular domain. Authors suggest that this represents a hypomorphic allele. Production of a shortened transcript was confirmed by RT-PCR using kidney tissue.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Pkhd1<del3-4>,
  • Pkhd1<del3-4>
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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

8 Publication categories