This transgene contains a variant of human SOD1 that encodes a termination at codon position 103 (V103Z) with mutations at histidines at positions 46, 48, and 63 to R, Q, and G, respectively, to eliminate copper binding. In addition introns between exons 3, 4, and 5 of SOD1 were removed, creating a fragment with just two introns (one between exon 1 and 2 and one between exon 2 and 3) and exons 3, 4, and 5 fused to make one new exon. Two lines, E-17 and D-14, were established. (J:218091)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C3H/HeJ x C57BL/6J)F2
--
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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