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The mouse promoter drives neuronal expression of the human cDNA with point mutations that result in the amino acid substitution of threonine for alanine at position 315 (A315T). This mutation was identified in human patients with amyotrophic lateral sclerosis with TARDBP proteinopathies. Four lines were established (23, 27, 35, and 61). (J:165985)
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
