在5' UTR区域插入了一个loxP位点带有终止子和诺卡因抗性基因座,然后对exon 2进行基因突变,将GAA的谷氨酸密码子替换为GCG的Alanine密码子(p.Glu177Ala)。随后通过Cre介导的重组移除了neo和stop元件。PCR和cDNA测序确认了这个等位基因的突变转录本表达。(来源:J:241009)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
18
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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