在第8外显子上游插入了一个带有splice接受器、四个SV40poly(A)序列和splice供体的去氨甲基化puromycin。第9外显子通过C到G的点突变被修改,导致第286位的arginine被proline替换(P286R)。这种突变存在于人类某些癌症中,并会导致DNA复制出错(来源:J:266324)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Single point
--
1
8
2

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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