在exon 2的第62位,丝氨酸(AGC)被替换成了 alanine(等同于人类的p.S68A),通过sgRNA(靶向GGAACTTACAACCATGCTGA)和ssODN模板,应用了CRISPR/Cas9技术。这个突变阻止了该位置的磷酸化(来源:J:328357)

Basic Information

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