这个自发发生的6个碱基对的缺失( GCTCCG),导致了位置259和260的氨基酸Leucine和Arginine被去除,变异表现为p.(Leu259_Arg260del) (来源:J:301674)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ
Spontaneous
基因内删除
隐性
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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