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中文
在内含子7中引入了一个点突变，将第250位的密码子从编码脯氨酸变为编码精氨酸(Pro250Arg)。这个突变与该基因已知的人类变异相关，是Pfeiffer综合症的致病因素。同时，一个由loxP序列引导的诺卡因载体被插入到了内含子6中。(来源：J:63959)
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
