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中文
在第892位有一个A到T的转换，导致第298位的arginine替换为 cysteine(等同于p.R298C)。这个改变发生在exon 5，同时在 intron 5插入了一个含loxP标记的诺卡因选择性载体。随后，通过Cre介导的重组移除了这个选择性载体。R298C是造成Charcot-Marie-Tooth病2B1患者纯合突变的原因。(引用：J:322912)
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：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
