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Allele : Pkhd1<cyli> polycystic kidney and hepatic disease 1; cystic liver

Primary Identifier  MGI:7568836 Allele Type  Spontaneous
Attribute String  Modified isoform(s) Gene  Pkhd1
Inheritance Mode  Recessive Strain of Origin  D2.B6Ei-(D4Mit42-D4Smh6b)/11Ei
Is Recombinase  false Is Wild Type  false
molecularNote  This spontaneous mutation in exon 48 has a GG deletion at c.7588_7589 and an insertion of one T, which leads to altered amino acid sequence followed by a premature termination codon 44 basepair downstream
  • mutations:
  • Insertion,
  • Intragenic deletion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele