在第18外显子插入了R780Q变异,通过同源重组在第18内含子插入了FRT介导的neo cassette。随后,Flp诱导的重组移除了neo cassette。这个突变预计会阻止该蛋白结合GTP后促进RAS的水解作用。(来源:J:216433)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
10
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
No Data Found!
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