Pkhd1^em1Mrug
Chemically induced Allele Detail

Summary

• Symbol: Pkhd1^em1Mrug
• Name: polycystic kidney and hepatic disease 1; endonuclease-mediated mutation 1, Michal Mrug
• MGI ID: MGI:6388657
• Synonyms: Pkhd1^C642*
• Gene: Pkhd1 Location: Chr1:20128003-20688288 bp, - strand Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
• Alliance: Pkhd1^em1Mrug page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 7 bp deletion (c.1926_1932delTGATTGG) in exon 20 resulting in a truncating mutation at the cysteine in position 642 (C642*). RT-PCR showed absence of the expected 235-bp product in homozygotes. (J:281464)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pkhd1 Mutation: 222 strains or lines available

References

• Original: J:281464 Shan D, et al., Heterozygous Pkhd1(C642*) mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. Am J Physiol Renal Physiol. 2019 Mar 1;316(3):F463-F472
• All: 1 reference(s)