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A 12kb genomic fragment containing the entire human SOD1 gene was mutated so that the histidine residue at position 46 was replaced by arginine and the histidine at position 48 was replaced by glutamine in the encoded protein. This line is the representative line of 10 that developed motor neuron disease before 1 year of age. Lines 73, 67, and 58 show identical pathological changes. (J:119631)
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
