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Pkd1tm1Djmp
Targeted Allele Detail
Nomenclature
Symbol: Pkd1tm1Djmp
Name: polycystin 1, transient receptor poteintial channel interacting; targeted mutation 1, Dorien JM Peters
MGI ID: MGI:3521583
Synonyms: Pkd1neolox, Pkd1nl
Gene: Pkd1  Location: Chr17:24549950-24596514 bp, + strand  Genetic Position: Chr17, 12.4 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:94582
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Conditional ready, Hypomorph)
Mutation:    Insertion
 
Mutation detailsThis is a hypomorphic allele created by the insertion of a loxP-flanked neo into intron 1 and a third loxP site into intron 11. The neo causes aberrant splicing of intron 1, yielding 13-20% normally spliced transcripts in the majority of mutant mice. (J:94582)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:94582 Lantinga-van Leeuwen IS, et al., Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet. 2004 Dec 15;13(24):3069-77
All:  10 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
08/13/2019
MGI 6.14
The Jackson Laboratory