About   Help   FAQ
Pkd1tm2.2Bol
Targeted Allele Detail
Nomenclature
Symbol: Pkd1tm2.2Bol
Name: polycystin 1, transient receptor poteintial channel interacting; targeted mutation 2.2, Alessandra Boletta
MGI ID: MGI:4366013
Synonyms: Pkd1deltaC, Pkd1deltaCMyc
Gene: Pkd1  Location: Chr17:24549950-24596514 bp, + strand  Genetic Position: Chr17, 12.4 cM
Pkd1tm2.2Bol/Pkd1tm2.2Bol 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 detailsGerm 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 Pkd1tm2.1Bol and Pkd1tm2.2Bol alleles
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 7 anatomical structures
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:  99 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/10/2019
MGI 6.14
The Jackson Laboratory