Log In|Sign Up
EN
The transgene contains the complete genomic sequence of the human superoxide dismutase 1, with a mutation in exon 4 changing codon 90 from aspartate to alanine (p.D90A). This mutation is the most common mutation found in amyotrophic lateral sclerosis (ALS) patients. Founders 134 and 154 had the highest transgene copy number and were selected for further study. (J:269950)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
