喜马拉雅等位点的突变被发现是一个在第1259位编码碱基由A变为G的点突变,导致第420位氨基酸从 histidine 变为 arginine(p.H420R)。(来源:J:9824)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(DBA/2 x AKR/J)F1
Spontaneous
单点
半显性
1
14
7

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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