This transgene consists of a hemagglutinin-tagged mouse Lgi1 BAC construct containing a premature translational stop codon in exon 6 to reproduce the human autosomal dominant lateral temporal lobe epilepsy mutation 835delC that truncates the C-terminal epitempin repeat and ADAM22-binding domain. (J:154129)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count