This transgene consists of the human SOD1 gene with a leucine to glutamine/glutamic acid substitution at position 126 (L126Z) in exon 5. This mutation results in a premature stop codon at 126 and produces a truncated product that lacks the C-terminal 28 amino acids. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:109458)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count