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The promoter was used to drive brain-specific expression of a cDNA that encodes the longest three-repeat human isoform with nucleotide substitutions resulting in the amino acid substitution of methionine for valine at position 337 (V337M). This mutation was originally identified in patients with frontotemporal dementias with Parkinsonism linked to chromosome 17 (FTDP-17). No line information was given. (J:143018)
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
