6-8号外显子经Cre介导的剪切后被去除,该序列编码了TGase的催化核心区域。Northern blot和RT-PCR的实验都证实了突变心脏中没有转录本。在突变肝细胞膜和心脏细胞质中,通过 Western blot 实验检测到了蛋白质缺失。(来源:J:95130)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
基因内删除
--
1
--
27

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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