这个18号染色体1,456,854,190位的自发A到T突变(在GRCm38建模)导致第四外显子产生了一个无义突变,将赖氨酸(528/793/803)替换为终止密码子(NP_536713: p.R528*, ENSMUSP00000067884: p.R793*, NP_001299834: p.R803*)。引用来源:J:207676, J:222308

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.129P2-Apoetm1Unc/J
Spontaneous
单点
隐性
1
3
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
No Data Found!
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