在Fmr1的保守顺式调控元件(CRE)中,通过sgRNA(靶向ACCTTGTGTCTATGACTATTTGG)和ssODN模板(TAAGATGGATTCATATTAGGGCTCAAATGCATTGATAGCATTCTACATATTTTTATCCATTTTTATTCCAAGCTACTTTTATCCAAATAGTTATAGACACAAGGTTATTGCAAATTGTATTTGTCTGCTGCCATAGT GCTTTCTATTTTAGAGGAGTAGAAGTAACTATCTCCTTAACAA)使用CRISPR/Cas9技术引入了C>T突变。这个突变模拟了某些携有X连锁智力障碍(XLID)家族中发现的那种变异。(来源:J:308813)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Applicable
Endonuclease-mediated
单点
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--
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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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