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Gja5tm2.1Kwi
Targeted Allele Detail
Summary
Symbol: Gja5tm2.1Kwi
Name: gap junction protein, alpha 5; targeted mutation 2.1, Klaus Willecke
MGI ID: MGI:5544269
Synonyms: Cx40A96S
Gene: Gja5  Location: Chr3:96939718-96960950 bp, + strand  Genetic Position: Chr3, 42.04 cM
Alliance: Gja5tm2.1Kwi page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:205109
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprt1b-m3
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsNucleotide substitution(s) result(s) in the amino acid substitution of serine for alanine at position 96 (A96S). An IRES EGFP was inserted downstream of the modified coding sequence. Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette inserted downstream of EGFP. (J:205109)
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Gja5 Mutation:  18 strains or lines available
References
Original:  J:205109 Lubkemeier I, et al., The connexin 40 A96S mutation causes renin-dependent hypertension. J Am Soc Nephrol. 2011 Jun;22(6):1031-40
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
04/16/2024
MGI 6.23
The Jackson Laboratory