Log In|Sign Up
中文
Exon 3被替换成一个带有floxed neo cassette的修饰过的Exon 3，其中通过c.G2723A和一个产生新且独特Sal1限制性酶切位点的silent突变，导致了赖氨酸（R）替换为histidine（H）的氨基酸位置132（R132H）。这模拟了人类Leucoencephalopathy with vanishing white matter患者中发现的突变。(引用：J:179801)
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
