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中文
在exon 10的518-519位点，由GC变为AG导致R173（Arginine）变为Q（Glutamine）的替换，这是人类常染色体显性急性间歇性卟啉症的一种突变。通过Cre介导的重组，去除了内含子9中的诺卡因选择性 cassette。（来源：J:275245）
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
