这种由TALEN介导的突变在染色体17:34264928-34264988(GRCh38)有一个61bp的缺失,接着是39bp的内源序列保留,然后是507bp的删除,位置在17:34265028-34265534,其中插入了7bp的CCGTCAC,导致了exon2的大部分功能受损。流式细胞术分析证实了这是个无功能等位基因。(来源:J:268035)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
NOD.Cg-Prkdcscid H2-K1b-tm1Bpe H2-D1b-tm1Bpe Il2rgtm1Wjl/Sz
Endonuclease-mediated
插入,基因内删除
不确定
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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