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中文
在基因的第十外显子10位置引入了一个K644M的赖氨酸到甲硫氨酸的替换，同时在第十内含子中增加了一个floxed neo cassette。这个变异在人类中对应于K650M（在第十五外显子），与伴有严重 achondroplasia、发育迟缓和黑色棘皮症（SADDAN）的病症相关联。（来源：J:70061）
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
