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The genomic fragments containing the human NEFH gene, flanked by 5'-promoter region and 3' sequences, coding for 44 Lys-Ser-Pro (KSP) phosphorylation sites, was used for the transgene. The total amount of protein detected in cytoskeletal-enriched preparations of the spinal cord corresponds to about two-fold the level detected in normal mice as determined by Coomassie blue after SDS/PAGE. (J:69179)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
