用同位素诱变技术在该位点的第10外显子中插入了核苷酸替换,将Leucine(Leu)的443位点替换为Alanine(Ala)(L443A,CTG替换为GCC),Arginine(Arg)的445位点替换为Alanine(Ala)(R445A,AGA替换为GCA),并引入了一个Xma1酶切位点。最初这些改变被描述为L424A和R426A。此外,位于第10外显子上游的有一个FRT引导的Neomycin抗性基因,后面跟着一个loxP位点。通过Flp介导的重组,移除了含FRT的Neo cassette。参考文献:(J:303230)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJaeSor
Targeted
核苷酸替换
--
1
19
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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