在exon 6的arginine(精氨酸)第186位( CGA)被替换成了色氨酸(tryptophan, TGG),通过crRNA、tracrRNA和ssODN模板,使用了CRISPR/Cas9技术。这个突变影响了听觉毛细胞的机械电传导(MET),导致了耳聋。(来源:J:307668)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
核苷酸替换
--
1
6
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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