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Aqp4tm1Ask
Targeted Allele Detail
Summary
Symbol: Aqp4tm1Ask
Name: aquaporin 4; targeted mutation 1, Alan S Verkman
MGI ID: MGI:1857808
Synonyms: AQP4-
Gene: Aqp4  Location: Chr18:15522553-15544039 bp, - strand  Genetic Position: Chr18, 8.74 cM
Alliance: Aqp4tm1Ask page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:42704
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 (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin resistance cassette replaced part of the exon 1 coding sequence (bp 298 - 381) into ~1kb of intron 1. Northern blots of brain homogenates from homozygous mutant mice showed minimally detectable truncated Aqp4 transcripts. Western blots of brain homogenates from homozygous mutant mice showed no detectable Aqp4 protein. Immunocytochemistry of renal tissue from homozygous mutant mice showed no detectable Aqp4 protein. (J:42704)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Aqp4 Mutation:  46 strains or lines available
References
Original:  J:42704 Ma T, et al., Generation and phenotype of a transgenic knockout mouse lacking the mercurial-insensitive water channel aquaporin-4. J Clin Invest. 1997 Sep 1;100(5):957-62
All:  73 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
11/12/2024
MGI 6.24
The Jackson Laboratory