Pkhd1^tm1.1Ggg
Targeted Allele Detail

Summary

• Symbol: Pkhd1^tm1.1Ggg
• Name: polycystic kidney and hepatic disease 1; targeted mutation 1.1, Gregory G Germino
• MGI ID: MGI:3759215
• Synonyms: Pkhd1^del3-4
• Gene: Pkhd1 Location: Chr1:20128003-20688288 bp, - strand Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
• Alliance: Pkhd1^tm1.1Ggg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:125113
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvEv

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: Exon 3 and 4 wwere removed by cre-mediated recombination using the B6.129S4-Meox2^tm1(cre)Sor line. The protein product is predicted to include the signal sequence but lack an adjacent 123 amino acid fragment of the extracellular domain. Authors suggest that this represents a hypomorphic allele. Production of a shortened transcript was confirmed by RT-PCR using kidney tissue. (J:125113)

Disease models

Expression

In Structures Affected by this Mutation:

5 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:125113 Garcia-Gonzalez MA, et al., Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet. 2007 Aug 15;16(16):1940-50
• All: 5 reference(s)