Pkhd1^cyli
Spontaneous Allele Detail

Summary

• Symbol: Pkhd1^cyli
• Name: polycystic kidney and hepatic disease 1; cystic liver
• MGI ID: MGI:7568836
• Gene: Pkhd1 Location: Chr1:20128003-20688288 bp, - strand Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
• Alliance: Pkhd1^cyli page

Mutation origin

• Strain of Origin: D2.B6Ei-(D4Mit42-D4Smh6b)/11Ei

Mutation description

• Allele Type: Spontaneous (Modified isoform(s))
• Mutations: Insertion, Intragenic deletion
• Mutation details: 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 (J:343537)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pkhd1 Mutation: 225 strains or lines available

References

• Original: J:343537 Yang C, et al., Pkhd1 cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease. J Mol Med. 2023;101(9):1141-1115
• All: 2 reference(s)