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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)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
