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Aqp2tm1(AQP2)Suc
Targeted Allele Detail
Nomenclature
Symbol: Aqp2tm1(AQP2)Suc
Name: aquaporin 2; targeted mutation 1, Shinichi Uchida
MGI ID: MGI:3687866
Synonyms: AQP2(763-772 del)
Gene: Aqp2  Location: Chr15:99579056-99584545 bp, + strand  Genetic Position: Chr15, 56.13 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:113716
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Aqp2tm1(AQP2)Suc expresses 1 gene
 
Mutation detailsThe C terminus was exchanged for that of the human AQP2 with a deletion of bp 763-772. A floxed lacZ-neo was included in the vector and subsequently removed via cre-mediated recombination. Western blot detected expression of a chimeric protein in mutant mice. (J:113716)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Aqp2 Mutation:  6 strains or lines available
References
Original:  J:113716 Sohara E, et al., Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation. Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14217-22
All:  1 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
05/12/2015
MGI 5.21
The Jackson Laboratory