(CMV增强子和鸡β-actin)启动子被用来驱动由去除了内含子的氯胺酮甲酰转移酶(CAT)基因的修改过的Ptpn11基因表达,该基因的突变是510位的谷氨酸替换为 glutamine。这种Q510E变异在伴有多个雀斑的侵袭性诺曼综合症患者中被发现。当未指明或合并线条时,使用#作为标识。来源:(J:237450)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
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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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