自发突变产生了一个8个碱基的缺失和1个碱基的插入。这种变异导致了框架移位,从重链的C端移除了297个氨基酸,并失去了整个LC2轻链。 Western blot分析证实了产生了截短的重链。(来源:J:220153)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BLKS/J-Npc1spm/J
Spontaneous
基因内删除
隐性
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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