这个基因在exon 2位置插入了PGK-neo cassette,导致其功能受损。通过对肺组织的Northern blot分析,没有检测到纯合突变动物的成熟mRNA,但发现了一个较弱的、较小尺寸的带。RT-PCR和测序结果显示,这个产物是经由exon 1到exon 3的替代性剪接转录本,跳过了exon 2。在纯合突变动物的肺泡灌洗液中未检测到蛋白质产品。(来源:J:69619)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
插入
--
1
5
8

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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