这个基因的催化域,包括子域V和VI,通过同源重组被一个诺卡因抗性 cassette替换,这在所有3个阅读框中引入了终止密码,导致酶体功能缺失,缺失130到383个氨基酸。同源突变动物的脾脏Northern blot结果显示基因不表达,而小鼠胚胎成纤维细胞的酶活性测定也证实了酶的丧失(来源:J:59678)。

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
--
70

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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