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Gja1tm2Clo
Targeted Allele Detail
Summary
Symbol: Gja1tm2Clo
Name: gap junction protein, alpha 1; targeted mutation 2, Cecilia W Lo
MGI ID: MGI:6119696
Synonyms: Gja1S325A/S328Y/S330A
Gene: Gja1  Location: Chr10:56253297-56266519 bp, + strand  Genetic Position: Chr10, 28.64 cM
Alliance: Gja1tm2Clo 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 detailsThree 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  59 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory