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Pkd1tm1Jzh
Targeted Allele Detail
Summary
Symbol: Pkd1tm1Jzh
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Jing Zhou
MGI ID: MGI:1857562
Synonyms: del34, Pkd1-, Pkd1del34
Gene: Pkd1  Location: Chr17:24768808-24815482 bp, + strand  Genetic Position: Chr17, 12.4 cM
Alliance: Pkd1tm1Jzh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:43193
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details: Exon 34 was replaced with a neomycin cassette, resulting in expression of a truncated protein. This mutation mimics a known mutation in humans. (J:43193)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 16 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 19 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:43193 Lu W, et al., Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nat Genet. 1997 Oct;17(2):179-81
All:  14 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
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory