单个碱基c.1042由A变为T的替换,导致第348位的Alanine被Threonine替换,即p.A348T。将这种突变的BAC克隆导入野生型小鼠中,会呈现出与携带该等位基因的小鼠相同的表型。(来源:J:122738)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
H2wm7 x B10.MOL-SGR x B10.H2
Spontaneous
单点
显性
1
--
2

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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