Log In|Sign Up
EN
The nucleotide G at position 943 was substituted for A resulting in an A to T change at amino acid 315 in exon 6. A loxp-flanked neomycin-resistant gene that inserted in intron 4 was removed via cre-mediated recombination. The A315T mutation is seen in several European families with amyloid lateral sclerosis. (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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
