设计了一条导向RNA( CGAGAAGGTGGACCTGATCANGG),目标是插入导致第379位氨基酸由谷氨酰胺变为组氨酸的错义突变( Q379H)。这个突变类似于人类ESR1基因中的Q375H变异,与雌激素不敏感综合症(EIS)关联。另外,还加入了四个无声的bp改变,以防止重定向和误定向。(来源:J:295332)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Insertion, Nucleotide substitutions
--
1
4
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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