在exon 29的Proline第1019位(密码子CCT)被设计替换为Arginine(密码子CGT),通过sgRNA(靶向序列TTGAGAATACTCACAAGAGGAGG)和ssODN模板(ATTTCGAAGGCCAAAGAATATACATCTCCGAAATTTCTATATCATTGTTCGTCCTCTTGTGAGTATTCTCAAAACTAGAAGTGAGTTATTGATGGGTGTTAATACAGATTCAGTTTCCATAAAGCA)使用CRISPR/Cas9技术实现。这种突变模拟了某些人类Wiskott-Aldrich综合症患者中发现的突变。(来源:J:303795)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x SJL/J)F1
Endonuclease-mediated
单点
--
1
2
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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