单链向导RNA(5'-TCTCTACCATAACTCAATGT-3')被用来在exon 2的第154位氨基酸位置(由P154S, CCT替换为TCT)插入一个脯氨酸到丝氨酸的替换。同时,插入了silent位点的核苷酸改变G153G(由GGC变为GGA),以消除PAM的切割位点。P154S突变在人类ALS和FTD(前额叶皮质萎缩)患者中被发现。(来源:J:334515)

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
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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