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中文
在第9外显子插入了核苷酸替换(TGG到TAG)，导致了第392位的氨基酸由色氨酸替换为终止密码子(Trp392X)。通过Cre介导的重组，位于第8和9外显子之间的floxed neo cassette被移除，留下一个LoxP位点。这种突变模拟了霍尔林综合症(即MPS I-H)患者中发现的一种突变。RT-PCR结果显示，转录本的稳态水平减少了30%到50%。(来源：155619)
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
