在单个exon中的histidine(131)密码子(CAC)被替换为谷氨酰胺(CAG),导致p.H131Q变异。同时,插入了FRT(弗雷特)耐药性基因座和loxP(洛根P)序列,FRT位于上游,loxP位于下游。这种变异与人类的唇裂(或ofacial clefts)关联。随后通过flp介导的重组移除了neo cassette(新霉素抗性基因)。(来源:J:311539)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Targeted
Insertion, Single point
--
1
5
1

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

References Literature

Title
PMID
Journal
Year
IF
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