引导RNA([GACCCGCUUCCGACGCUUG])用于在第212位(等位基因为A到T,位置634)替换苯丙氨酸为异亮氨酸(替换为I212F)。参考使用的是Drd2转录本Drd2-201(ENSMUST00000075764.8),该转录本对应于第5外显子。在人类中,这个I212F变异与进行性舞蹈症和颈性肌张力障碍相关联。(来源:J:343841)

Basic Information

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