这个基因通过同源重组,用1300bp的富含脯氨酸的外显子替换,插入了抗氨苄青霉素抗性基因 cassette,导致所有3个阅读框都产生了终止密码子。删除区域编码433个氨基酸,包含FH1域。对纯合突变体大脑RNA的Northern blot分析证实了野生型基因产物的缺失。观察到部分通过读通转录本,包含氨苄青霉素抗性基因 cassette。(来源:J:81246)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
插入
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1
2
17

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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