Gja1^tm11.1Kwi

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 single frt site (left by FLP recombinase excision of a 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, resulting in expression of the mutant gene. (J:228567)