在第28外显子被替换为一个修改过的第28外显子,其中由GAT变为TAA的核苷酸替换导致在第二个加工位点由终止密码子替换为天冬氨酸。这种突变阻止了C-末端亚基的表达。 Western blot结果显示,C-末端亚基的表达缺失以及N-末端亚基的表达降低。通过Cre介导的重组移除了neo cassette。(来源:J:183048)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
--
1
15
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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