在起始密码子c.40处的T到C转换导致第14个氨基酸从 cysteine 变为 arginine(p.C14R),这个变化发生在信号肽区域。虽然转录本水平正常,但该蛋白质在自然杀细胞(NK细胞)中并未检测到。(来源:J:257226)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.SJL-Ptprca Pepcb/BoyJ
Spontaneous
单点
隐性
1
2
2

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
No Data Found!
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