Exon 3被替换了,通过同源重组插入了诺他霉素/卡那霉素抗性 cassette。缺失区域编码了126到251的氨基酸,这部分构成了辅酶A和钴胺素结合区域。在纯合突变小鼠的肝RNA中,通过RT-PCR分析未检测到转录本。来自突变小鼠的初级成纤维细胞中[14C]丙酸的同化显示,酶活性降低到野生型水平的大约6%。(来源:J:87081)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
插入,基因内删除
--
1
2
6

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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