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This transgene constitutively expresses human neurofilament light (about 9.7 kb genomic fragment including the 1.7 kb endogenous 5' promoter sequence) with a G-to-A nucleotide substitution at nucleotide 3332 resulting in a glutamic acid to lysine mutation at position 397. Four lines were made, 661, 727, 728, and 730. The pound symbol (#) is used when no line is specified and/or lines are pooled. (J:173771)
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
