Pkhd1^tm1Rbu
Targeted Allele Detail

Summary

• Symbol: Pkhd1^tm1Rbu
• Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Reinhard Buettner
• MGI ID: MGI:3664756
• Synonyms: Pkhd1^-
• Gene: Pkhd1 Location: Chr1:20128003-20688288 bp, - strand Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
• Alliance: Pkhd1^tm1Rbu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:112509
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Disruption caused by insertion of vector
• Mutation details: A lacZ-pgk-neo disrupted exon 40. Mutants expressed a protein resulting from transcrtipts completely skipping exon 40 including the lacZ. Amino acids 2160-2223 were deleted in-frame. No lacZ staining is seen in homozygous or heterozygous mice. (J:112509)

Disease models

Expression

In Structures Affected by this Mutation:

2 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: 225 strains or lines available

References

• Original: J:112509 Moser M, et al., A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Hepatology. 2005 May;41(5):1113-21
• All: 1 reference(s)