这种mRNA编码序列中的G到C替换(位置151),导致第51位氨基酸从Alanine变为Proline(等位基因p.A51P)的非保守变化。这种变异阻碍了突变产物针对细胞膜的定位。(来源:J:31574)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
STOCK Rb(6.15)1Ald
Spontaneous
单点
半显性
1
8
4

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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