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中文
在exon 4的第572位引入了一个G到A的突变，导致第191位的赖氨酸被替换为histidine。此外，exon 5下游插入了一个含loxP标记的诺卡因 cassette。这个变异等同于人类中的c.584G>A，pArg195His，与vanishing white matter中最严重的类型相关。通过Cre介导的重组，去除了含有的诺卡因抗性 cassette，留下exon 4中的R191H突变。(来源：J:234659)
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
