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Pkd1tm3.1Jzh
Targeted Allele Detail
Nomenclature
Symbol: Pkd1tm3.1Jzh
Name: polycystin 1, transient receptor poteintial channel interacting; targeted mutation 3.1, Jing Zhou
MGI ID: MGI:3811234
Synonyms: Pkd1del2-6
Gene: Pkd1  Location: Chr17:24549950-24596514 bp, + strand  Genetic Position: Chr17, 12.4 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:140012
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsA loxP-flanked neomycin selection cassette was inserted into the EcoRI site located 1.2 kb upstream of exon 2, and a third loxP site placed downstream of exon 6. Chimeric mice were crossed with Tg(Prm-cre)58Og transgenic mice that express cre recombinase in male germ cells. Offspring were selected that had exons 2 through 6 excised. RT-PCR analysis of kidney mRNA demonstrated a truncated mRNA where exon 1 splices to exon 8 resulting in a premature stop codon. Immunoblot assays on homozygote kidney extracts demonstrate no protein expression by this mutant allele. (J:140012)
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: 2 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:140012 Starremans PG, et al., A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1. Kidney Int. 2008 Jun;73(12):1394-405
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)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory