The entire mouse Sod1 gene with an engineered point mutation in exon 4 resulting in a glycine to arginine substitution at residue 86 (G86R) was used as the transgene. Mutation G86R corresponds to the SOD1 G86R mutation found in some cases of human amyotrophic lateral sclerosis (ALS) patients. RT-PCR analysis detected expression of the transgene in brain, spinal cord, and other tissues. The missense mutation is a point mutation in exon 4 resulting in a glycine-86 to arginine substitution, which corresponds to amino acid position 86 in the human SOD1 protein. Transgenics exhibit widespread high expression of the transgene and do not exhibit diminished SOD1 activity. . (J:22628)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
FVB/N
--
Insertion
--
1
--
29

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

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PMID
Journal
Year
IF
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