Gja5^tm2.1Kwi
Targeted Allele Detail

Summary

• Symbol: Gja5^tm2.1Kwi
• 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: Gja5^tm2.1Kwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:205109
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Nucleotide 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)

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: 19 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)