这种突变是在经ENU处理小鼠G3代中通过毛色表型发现的,被识别为一个A到T的转换,导致第54位氨基酸位置的arginine密码子转变成了终止密码子(R54Ter)。在纯合突变小鼠的白细胞提取物中,通过免疫印迹分析并未检测到RAB27A蛋白。(来源:J:114299)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
单点
隐性
1
3
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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