Pkhd1^tm2Ggg
Targeted Allele Detail

Summary

• Symbol: Pkhd1^tm2Ggg
• Name: polycystic kidney and hepatic disease 1; targeted mutation 2, Gregory G Germino
• MGI ID: MGI:8221217
• Synonyms: Pkhd1^del3-67
• Gene: Pkhd1 Location: Chr1:20128003-20688288 bp, - strand Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
• Alliance: Pkhd1^tm2Ggg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:348336
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A greater than 400 kb deletion encompassing exons 3 to 67 was generated by interchromosomal recombination of Pkhd1^tm1.1Ggg which contains a loxP site upstream of exon 5 and Pkhd1^tm1.1Tjwt which contains a loxP site downstream of exon 66 and has exon 67 deleted using Tg(Ddx4-cre)1Dcas which expresses cre in the germline. (J:348336)

Disease models

Expression

In Structures Affected by this Mutation:

8 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: 227 strains or lines available

Notes

The allele was generated with two parental strains, Pkhd1^tm1.1Ggg made in 129/SvEv ES cells and Pkhd1^tm1.1Tjwt made in C57BL/6 ES cells. (J:348336).

References

• Original: J:348336 Ishimoto Y, et al., A novel ARPKD mouse model with near-complete deletion of the Polycystic Kidney and Hepatic Disease 1 (Pkhd1) genomic locus presents with multiple phenotypes but not renal cysts. Kidney Int. 2023 Sep;104(3):611-616
• All: 1 reference(s)