Gja5tm2Kwi
Targeted Allele Detail
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Symbol: |
Gja5tm2Kwi |
Name: |
gap junction protein, alpha 5; targeted mutation 2, Klaus Willecke |
MGI ID: |
MGI:5544453 |
Synonyms: |
Cx40A96SNeo |
Gene: |
Gja5 Location: Chr3:96939718-96960950 bp, + strand Genetic Position: Chr3, 42.04 cM
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Alliance: |
Gja5tm2Kwi page
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Allele Type: |
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Targeted (Humanized sequence, Reporter) |
Mutations: |
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Insertion, Nucleotide substitutions
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Mutation details: The endogenous gene was modified by introduction of a mutation resulting in replacement of alanine by serine at amino acid position 96 of the protein (A96S) and, downstream of the gene, an internal ribosomal entry site (IRES), the coding sequence for enhanced green fluorescent protein (EGFP) and a frt site-flanked neomycin resistance cassette. The A96S mutation, which lies within the highly conserved pore-forming domain of the protein, was identified in a patient who experienced extended periods of atrial fibrillation.
(J:205109)
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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
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Carrying any Gja5 Mutation: |
18 strains or lines available
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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: |
1 reference(s) |
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