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Pkd2tm2Som
Targeted Allele Detail
Summary
Symbol: Pkd2tm2Som
Name: polycystin 2, transient receptor potential cation channel; targeted mutation 2, Stefan Somlo
MGI ID: MGI:1860866
Synonyms: null allele, Pkd2-, WS183
Gene: Pkd2  Location: Chr5:104607316-104653685 bp, + strand  Genetic Position: Chr5, 50.68 cM
Alliance: Pkd2tm2Som page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:47035
Parent Cell Line:  WW6 (ES Cell)
Strain of Origin:  STOCK 129/Sv and C57BL/6J and SJL
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation details: Exon 1 was disrupted by the insertion of a selectable Neo cassette in the same transcriptional orientation as the gene. This allele is a a presumed true null as opposed to WS25 which is an apparent hypomorphic allele. (J:59314)
Inheritance:    Semidominant
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: 41 assay results
In Structures Affected by this Mutation: 10 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 Pkd2 Mutation:  85 strains or lines available
References
Original:  J:47035 Wu G, et al., Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell. 1998 Apr 17;93(2):177-88
All:  43 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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Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory