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中文
在第六号染色体的85,627,934位基对(版本v38)由ENU诱导的C到T突变，或者在NC_000072的GenBank基因组区域的40,436位，对应于Alms1基因。这个变异对应NM_145223.2 mRNA序列的第10个外显子的第5,273位，总共有23个外显子。突变导致ALMS1蛋白中第1,720位的谷氨酰胺被替换为一个早终止密码子(p.Q1720*)。(参考文献：J:264649)
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
