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The human cDNA was engineered with a c.1077G>A point mutation, resulting in codon 315 changing from alanine to threonine (p.A315T or p.Ala315Thr). This mutation is associated with familial amyotrophic lateral sclerosis (ALS) in humans. A construct comprising the tetracycline inducible tetO promoter, the human cDNA and an SV40 poly signal, was injected into the pronuclei of fertilized C57BL/6 oocytes. Two lines, this line and numbers 13, were selected for further study. (J:245760)
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
