Gja1^tm11Kwi
Targeted Allele Detail

Summary

• Symbol: Gja1^tm11Kwi
• Name: gap junction protein, alpha 1; targeted mutation 11, Klaus Willecke
• MGI ID: MGI:5707849
• Synonyms: Cx43floxE42Kneo, mCx43floxE42Kneo
• Gene: Gja1 Location: Chr10:56253297-56266519 bp, + strand Genetic Position: Chr10, 28.64 cM
• Alliance: Gja1^tm11Kwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:228567
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Conditional ready, Inserted expressed sequence, Reporter)
• Mutation: Insertion
• Mutation details: Mice with this targeted allele conditionally express a protein with a novel missense mutation, identified in a 2-month-old boy who had died of sudden infant death syndrome (SIDS), that results in replacement of glutamic acid with lysine at amino acid position 42 of the protein (E42K). The targeted gene contains a pair of loxP sites flanking the wild-type coding sequence, the 3' untranslated region, and a frt-flanked, inverted neomycin resistance cassette; downstream of the second loxP site is a second copy of the gene sequence with the E42K mutation, an internal ribosomal entry site (IRES), and the enhanced green fluorescent protein (EGFP) coding sequence. Tissue specific Cre expression will delete the wild-type gene sequence and the selection cassette, resulting in expression of the mutant gene. (J:228567)

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:228567 Lubkemeier I, et al., Human Connexin43E42K mutation from a sudden infant death victim leads to impaired ventricular activation and neonatal death in mice. Circ Cardiovasc Genet. 2015 Feb;8(1):21-9
• All: 1 reference(s)