Allele/Variant

Pkd1tm2Jzh

Species
Mus musculus
Symbol
Pkd1tm2Jzh
Category
allele
Allele of gene
Pkd1
Transgenic Constructs
None
Synonyms
  • null
  • Pkd1null
Description
The gene was disrupted by insertion of a PGK-neo cassette into exon 4 via homologous recombination. RT-PCR analysis of homozygous mutants detected a mutant transcript, and sequencing of the product revealed splicing of part of the PGK-neo cassette into the message resulting in a stop codon 30 bp downstream of exon 3. Northern blot analysis of E13.5 homozygous mutant embryos using cDNA probes to the 5' and 3' regions of the gene revealed a transcript similar in size to the wild-type transcript. Western blot analysis using a monoclonal antibody directed to the N-terminal region of the protein showed that no protein product was made from the mutant transcript.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations