这种突变的分子基础是一个T到G的转换,导致第885位的亮氨酸变为赖氨酸(p.L885R)。这是一种导致Npr2产生无效形式的点突变,属于缺失突变类型。(来源:J:98753)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
AKR/J
Spontaneous
单点
隐性
1
3
20

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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