Exon 2被替换成一个新插入的基因片段。预测这种外显子的缺失会导致移框效应。Northern blot结果显示肾脏中存在一个比正常小的转录本。酶学实验在肾脏中未能检测到MGAT活性。(来源:J:231617)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
插入,基因内删除
--
1
--
1

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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