第25外显子被替换为一个,其中发生了一个导致第1279位氨基酸由谷氨酰胺替换为精氨酸的点突变。这个突变与神经母细胞瘤患者中识别的R1275相匹配。通过Cre介导的重组,去除了在修改后的外显子下游插入的诺卡因抗性基因 cassette。(来源:J:228124)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Single point
--
1
8
3

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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