这个等位基因最初是在非补救测试中定义的。在转录本NM_021099的第1790位编码核苷酸上有一个G到C的替换,导致第597位的甘氨酸被替换为异亮氨酸(p.G597A)。(来源:J:19931, J:28100)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL
Spontaneous
单点
半显性
1
27
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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