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The nucleotide A at position 1168 was substituted for G resulting in a N to D change at amino acid 390 in exon 6. A loxp-flanked neomycin-resistant gene that was inserted in intron 4 was removed via cre-mediated recombination. The N390D mutation was identified in a sporadic amyloid lateral sclerosis-TDP patient from Quebec. (J:285792)
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
