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中文
在exon 4中，替换了一个CGC到CAC的密码子，导致第191位的arginine被histamine取代。在exons 3和7的外侧插入了loxP位点，接着在exons 2和3之间插入了一个FRT引导的诺卡因抗性基因座。通过flp介导的重组，去除了诺卡因抗性基因。R191H突变与人类的R195H变异相似，后者导致婴儿期起病、进展迅速的白质消融症。(来源：J:278928)
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
