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This transgene contains the full length open reading frame of the human survival motor neuron 1 (SMN1) gene with a G to A transversion at nucleotide 400, resulting in replacement of glutamate by lysine at amino acid position 134 (E134K), under control of the ~750-bp SMN1 minimal promoter. The E134K mutation is associated in humans with some cases of Spinal Muscular Atrophy. (J:197598)
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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References Literature
Title
PMID
Journal
Year
IF
