Gja1^tm2Clo
Targeted Allele Detail

Summary

• Symbol: Gja1^tm2Clo
• Name: gap junction protein, alpha 1; targeted mutation 2, Cecilia W Lo
• MGI ID: MGI:6119696
• Synonyms: Gja1^{S325A/S328Y/S330A}
• Gene: Gja1 Location: Chr10:56253297-56266519 bp, + strand Genetic Position: Chr10, 28.64 cM
• Alliance: Gja1^tm2Clo 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: Three amino acid substitutions, an alanine for serine at amino acid 330 (TCC to GCA), a tyrosine for serine at amino acid 328 (TCC to TAC), and an alanine for serine at amino acid 325 (AGC to GCA), at sites phosphorylated by casein kinase 1, were introduced into exon II and a floxed PGK-Neo-Stop cassette was inserted upstream of exon II. Western blot analysis of whole heart lysates showed that the protein expression level is reduced by nearly 30%. (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: 6 reference(s)