The transgene contains the entire genomic sequence of human SOD1 with a 2-bp deletion at codon 126 and a FLAG sequence at the C-terminal. The mutation causes a frame shift and results in premature stop sequence at codon 131, resulting in a mutant protein of 130 amino acids. No SOD1 activity could be detected, however, Western and Northern analysis indicated protein expression and presence of RNA, respectively. Two lines were established, DF2 and DF7. (J:97932)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6
--
Insertion
--
1
--
2

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

References Literature

Title
PMID
Journal
Year
IF
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