Gja1^tm1.1Dalil
Targeted Allele Detail

Summary

• Symbol: Gja1^tm1.1Dalil
• Name: gap junction protein, alpha 1; targeted mutation 1.1, Dali Luo
• MGI ID: MGI:8448960
• Synonyms: Cx43-S282A
• Gene: Gja1 Location: Chr10:56253297-56266519 bp, + strand Genetic Position: Chr10, 28.64 cM
• Alliance: Gja1^tm1.1Dalil page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:292392
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Dominant negative)
• Mutations: Insertion, Single point mutation
• Mutation details:

  Serine codon 282 (TCT) in exon 2 was changed to alanine (GCT) (p.S282A) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 1. The neo cassette was removed through subsequent Cre-mediated recombination. In the encoded protein, the mutation changes a phosphorylatable residue into one that cannot be phosphorylated, which, when heterozygous, leads to pre-weaning death in many mice and arrhythmias and increased cardiomyocyte apoptosis in juveniles. (J:292392)

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 Gja1 Mutation: 62 strains or lines available

References

• Original: J:292392 Yang Y, et al., Connexin43 dephosphorylation at serine 282 is associated with connexin43-mediated cardiomyocyte apoptosis. Cell Death Differ. 2019 Jul;26(7):1332-1345
• All: 2 reference(s)