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中文
在Tg(282M13)1Kng基因中，发生了一个点突变，将第48位的甲硫氨酸替换为丝氨酸。这种突变在家族性骨软化症CCAL2患者中常见，体外实验显示其对PPi运输有野生型水平。(来源：J:122441)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
