The transgene construct was an 11 kb genomic fragment containing all exons of the human SOD1 gene and modified to have a 2 bp deletion associated with human amyotrophic lateral sclerosis. Four copies of the transgene were found to be inserted into intron 4 of the Ssbp3 gene, accompanying a 9 bp deletion. This produced a hypomorphic allele with ~32% of the expression level seen in wild-type embryos. (J:98485)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count