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A 12 kb genomic fragment of human SOD1 carrying the glycine to arginine substitution at amino acid 85 (G85R) fused to EYFP coding sequence through its C-terminal coding sequence in exon 5 was used as the transgene. The G85R mutation results in a misfolded protein associated with amyotrophic lateral sclerosis in humans and the mutant fusion protein behaves as a misfolded monomer. Southern blot analysis indicates that line 641 carries a single (multicopy) transgene insertion. In situ RNA hybridization indicates that the transgene is predominantly in motor neurons in the spinal cord. (J:144475)
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
