这种自发的G到A突变(染色体X:g.57092486G>A)导致 Gly72 位置的甘氨酸密码子被替换为 arginine(p.G72R),同时改变了剪接起始点的 G-GT 成为 A-GT。它仅存在于 A/J、BALB/cJ、BALB/cByJ、C3HeH、C3HeJ 和 SEA/GnJ 这几个特定的品种中。(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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