Log In|Sign Up
EN
The full human gene was isolated from PAC dJ100A14 and mutaginized (A>G) to introduce a p.H46R (substitution of histidine 46 with arginine) mutation in the encoded peptide. The transgene construct was micro-injected into (C57BL/6 x DBA/2)F1 embryos. The mutation represents a novel mutation found in some human familial amyotrophic lateral sclerosis (FALS) patients. Mouse line 70 expressed the human protein at 20-fold the level of the endogenous protein. The activity level of the mutated human protein was 20% of control level. (J:274745)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
