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中文
这个ENU诱发的突变是在慕尼黑ENU突变体项目中筛选代谢性骨骼疾病时发现的。这个突变是一个在基因exon 2的致病性突变，cDNA序列中的第148位由A变T，预测会导致编码蛋白质的第50位密码子由赖氨酸变为终止密码子。(来源：183993)
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
