Log In|Sign Up
中文
在exon 12的第433位，酪氨酸(TYR)被苯丙氨酸(phe)替换，变异编码为NM_001025074:c.1298_1299delATinsTC，p.Y433F。这是通过sgRNA(靶向TCCTCAGGTCTATGCCGTGGTGG)和ssODN模板，应用CRISPR/Cas9技术实现的。这个突变影响了编码肽的CARC区域，干扰了BDNF诱导的NTRK2向神经细胞表面的脂筏区域迁移。(来源：J:303948)
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
