设计了一个靶向载体,目标是将一个loxP位点插入第11个内含子,将一个loxP-FRT-介导的诺卡因 cassette(含FRT标签的Neo cassette)插入第13个内含子,以及在第15个外显子的G844D点突变,导致第2531位碱基由G变为A,进而氨基酸从甘氨酸变为天冬氨酸(Glycine to Aspartic Acid at position 844)。通过FLP介导的重组,去除了含FRT标签的Neo cassette(J:210296)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129 x C57BL/6
Targeted
Insertion, Single point
--
1
8
4

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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