Pkd1^tm2.2Bol
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm2.2Bol
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 2.2, Alessandra Boletta
• MGI ID: MGI:4366013
• Synonyms: Pkd1^deltaC, Pkd1^deltaCMyc
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm2.2Bol page

Pkd1^tm2.2Bol/Pkd1^tm2.2Bol embryos show mild hydrocephalus at E16.5

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:153606
• Parent Cell Line: TBV2 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

Allele Type: Targeted (Null/knockout) Mutations: Insertion, Intragenic deletion Mutation details: Germ line, cre mediated recombination removed the HA tag, exon 45, and exon 46. The truncated protein remains myc-tagged. The expression of the truncated protein lacking the C-terminus was confirmed by western blot analysis. (J:153606)

Generation of the Pkd1^tm2.1Bol and Pkd1^tm2.2Bol alleles

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 Pkd1 Mutation: 154 strains or lines available

References

• Original: J:153606 Wodarczyk C, et al., A novel mouse model reveals that polycystin-1 deficiency in ependyma and choroid plexus results in dysfunctional cilia and hydrocephalus. PLoS One. 2009;4(9):e7137
• All: 4 reference(s)