这个突变是在Jackson实验室通过向细胞注射Cas9 RNA和四种引导序列(CCTAGTACTTTATAGATGGA, CCCTCCATCTATAAAGTACT, TCATAAGTAGGAAATCTGTC, CTTTCATATGTGCAAAATAT)产生的,导致了15号染色体45,112,795到45,113,567bp之间一个773bp的缺失。这个变异删除了ENSMUSE00000125700(第2外显子)以及243bp的上下游内含子序列,包括剪接点的接受者和捐赠者,预测会导致第157位氨基酸之后序列改变,并在后续有12个氨基酸的早期截断。(来源:J:188991)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NJ
Endonuclease-mediated
基因内删除
不确定
1
--
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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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