这种自发突变(TT缺失在第57外显子,c.7670_7671del,GRCm39:chr16:g.15587786_15587787del)在一个B10.S-H2s/SgSlc封闭群中被发现。该突变导致了移码和早停密码子(p.F2557Sfs*3)。(来源:J:341230)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B10.S-H2s/SgSlc
Spontaneous
基因内删除
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1
2
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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