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Pkd2tm1Som
Targeted Allele Detail
Nomenclature
Symbol: Pkd2tm1Som
Name: polycystic kidney disease 2; targeted mutation 1, Stefan Somlo
MGI ID: MGI:1860840
Synonyms: hypomorphic allele, Pkd2TgHWS25Som, Pkd2WS25, PkdWS25
Gene: Pkd2  Location: Chr5:104459450-104505819 bp, + strand  Genetic Position: Chr5, 50.68 cM
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 (Hypomorph)
Mutation:    Insertion
 
Mutation detailsExon 1 was disrupted by the integration of the targeting vector into the first intron of the gene without replacing the first exon. This allele is described as a hypomorphic allele. (J:47035)
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 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 Pkd2 Mutation:  45 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:  22 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory