Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

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
Alliance:	Gja5tm2Kwi page

Germline Transmission:	Earliest citation of germline transmission: J:205109
Parent Cell Line:	HM-1 (ES Cell)
Strain of Origin:	129P2/OlaHsd-Hprt1b-m3

Allele Type:    Targeted (Humanized sequence, Reporter) Mutations:    Insertion, Nucleotide substitutions   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)

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 Gja5 Mutation:	18 strains or lines available

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)