Exon 3被一个PGK-neo cassette插入,导致其功能受损。目标等位基因可能编码一个缺少了7个必需的 cysteine 氨基酸编码的转录本。对嗅球总RNA的RT-PCR分析显示,纯合突变胚胎中未检测到正常转录本。(来源:J:81451)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
插入
--
1
1
5

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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