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CRISPR/Cas9 technology generated an A to G nucleotide change at position 1009 resulting in a methionine to valine substitution at amino acid 337 in exon 6. Analysis of mRNA levels and protein levels in the brain shows no difference in expression level from wild-type. Splicing of mRNAs regulated by TARDBP is deregulated in spinal cords, indicating a gain of splicing function. The M337V mutation is seen in patients with amyotrophic lateral sclerosis. (J:285477)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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
