Log In|Sign Up
中文
对序列分析显示，自发性地发生了第139或140位的天冬酰胺密码子缺失，通过从AACAACAA序列的415-422位位置删除CAA/ACA/AAC这三个核苷酸。缺失的密码子位于α螺旋杆状区域。通过对5周龄纯合突变小鼠皮肤提取的RNA进行Northern blot和RT-PCR分析，检测到了转录水平的降低。免疫组织化学分析显示了在内根鞘和异常地在毛发中存在蛋白质，这表明了蛋白质定位的异常。(来源：J:86407)
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
