Pkd1^tm3.1Jzh
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm3.1Jzh
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 3.1, Jing Zhou
• MGI ID: MGI:3811234
• Synonyms: Pkd1^del2-6
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm3.1Jzh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:140012
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A loxP-flanked neomycin selection cassette was inserted into the EcoRI site located 1.2 kb upstream of exon 2, and a third loxP site placed downstream of exon 6. Chimeric mice were crossed with Tg(Prm-cre)58Og transgenic mice that express cre recombinase in male germ cells. Offspring were selected that had exons 2 through 6 excised. RT-PCR analysis of kidney mRNA demonstrated a truncated mRNA where exon 1 splices to exon 8 resulting in a premature stop codon. Immunoblot assays on homozygote kidney extracts demonstrate no protein expression by this mutant allele. (J:140012)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Pkd1 Mutation: 154 strains or lines available

References

• Original: J:140012 Starremans PG, et al., A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1. Kidney Int. 2008 Jun;73(12):1394-405
• All: 4 reference(s)