The transgene construct was an 11 kb genomic fragment containing all exons of the human SOD1 gene and modified to have a 2 bp deletion associated with human amyotrophic lateral sclerosis. Four copies of the transgene were found to be inserted into intron 4 of the Ssbp3 gene, accompanying a 9 bp deletion. This produced a hypomorphic allele with ~32% of the expression level seen in wild-type embryos. (J:98485)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x C3H/He)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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