Log In|Sign Up
EN
Residue arginine 132 was changed to histamine, loxP sites were inserted flanking some of the exons including the mutation, and a FRT-flanked neomycin resistance cassette was inserted upstream of the mutation. The neomycin resistance cassette was removed via flp-mediated recombination. The R132H mutation corresponds to the vanishing white matter causing human R136H allele. (J:278928)
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
