一段包含exon 2和相邻内含子序列的1.3kb片段通过同源重组被neo标记筛选 cassette替换。删除区域编码了DNA结合和二聚化区域。通过同源突变肝脏和脑组织的RT-PCR分析,检测到了源于exon 1到exon 3剪接的异常转录本。序列分析显示,突变转录本偏离了原有框架,并在exon 3终止,编码一个由31个氨基酸组成的多肽。(来源:J:81645)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
插入,基因内删除
--
1
--
12

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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