人类启动子驱动表达的是突变犬cDNA的第3种形式,它在第601位氨基酸被截短,导致苏氨酸被阿尔法氨基酸(阿尔法110)和谷氨酸被谷氨酰胺(谷氨酰胺113)替换,这个变异是S110A/E113Q。(引用:J:104881)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6J
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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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