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Pkd1tm3.2Bol
Targeted Allele Detail
Summary
Symbol: Pkd1tm3.2Bol
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 3.2, Alessandra Boletta
MGI ID: MGI:4366015
Synonyms: Pkd1deltaCHA
Gene: Pkd1  Location: Chr17:24768808-24815482 bp, + strand  Genetic Position: Chr17, 12.4 cM
Alliance: Pkd1tm3.2Bol page
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 myc tag, exon 45 and exon 46. The truncated protein remains HA tagged. The expression of the truncated protein lacking the C-terminus was confirmed by western blot analysis. (J:153606)
Generation of the Pkd1tm3.1Bol and Pkd1tm3.2Bol alleles
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 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:  1 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)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory