这个自发的C到G突变(在反向基因链上;chrX:163979223G>C在正向链上),将Proline的密码子308替换为Alanine的密码子(p.P308A)。它存在于AKR/J、BALB/cJ、BALB/cByJ、MOLF/EiJ、PWK/PhJ、RF/J、SEA/GnJ、SPRET/EiJ和WSB/EiJ这些品种中。(来源:J:294207)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
various
Spontaneous
单点
--
1
--
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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