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This transgene construct consists of the human SOD1 gene with an alanine to valine substitution at position 4 (A4V) in exon 1. Northern and Western analysis confirmed RNA and protein expression in the brain. This mutation alters the activity of the protein and mice show greatly reduced enzymatic activity. Two lines were made, A1073 and A1074. (J:32665)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
