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Aqp2tm1Ask
Targeted Allele Detail
Nomenclature
Symbol: Aqp2tm1Ask
Name: aquaporin 2; Targeted mutation 1, A S Verkman
MGI ID: MGI:3511443
Gene: Aqp2  Location: Chr15:99579056-99584545 bp, + strand  Genetic Position: Chr15, 56.13 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:94003
Parent Cell Line:  CB1-4 (ES Cell)
Strain of Origin:  C57BL/6J x (Rb(11.16)2H x Rb(16.17)32Lub)F1
Mutation
description
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
 
Mutation detailsT126M, H122S, N124S and A125T mutations were introduced into exon 2 by homologous recombination. A Pol2neobpA cassette flanked by loxP sites was inserted into intron 2. Northern blot showed 3.5-fold marked-up regulation of the transcript in mutants. (J:94003)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 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 Aqp2 Mutation:  13 strains or lines available
References
Original:  J:94003 Yang B, et al., Neonatal mortality in an aquaporin-2 knock-in mouse model of recessive nephrogenic diabetes insipidus. J Biol Chem. 2001 Jan 26;276(4):2775-9
All:  2 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
12/03/2019
MGI 6.14
The Jackson Laboratory