Log In|Sign Up
中文
这种症状背后分子缺陷涉及的基因突变是删除了Itpr1蛋白的基因。这个基因组的删除影响了mRNA的前两个外显子，但并未打断转录的框架。蛋白质的表达量下降，预测其丧失了多个调节位点。(来源：J:37547)
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
