这个基因在exon 9位置被插入了一个neo cassette,随后10、7、8和9号外显子也发生了复制。这个插入和复制导致了框架突变和过早的翻译终止。突变基因通过RT-PCR分析得到了确认。(来源:J:61978)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Duplication, Insertion
--
1
17
3

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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