Gja1^tm1Clo
Targeted Allele Detail

Summary

• Symbol: Gja1^tm1Clo
• Name: gap junction protein, alpha 1; targeted mutation 1, Cecilia Lo
• MGI ID: MGI:6119694
• Synonyms: Gja1^S368A
• Gene: Gja1 Location: Chr10:56253297-56266519 bp, + strand Genetic Position: Chr10, 28.64 cM
• Alliance: Gja1^tm1Clo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:253159
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An alanine substitution for serine at amino acid 368 (AGC to GCT) at a protein kinase C (PKC) phosphorylation site was introduced in exon II and a floxed PGK-Neo cassette was inserted upstream of exon II. Western blot analysis of whole heart lysates showed that the protein expression level is reduced by more than 70%. (J:253159)

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 Gja1 Mutation: 60 strains or lines available

References

• Original: J:253159 Huang GY, et al., Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models. J Cardiovasc Dis Res. 2011 Oct;2(4):206-12
• All: 4 reference(s)