内源性基因通过同源重组引入了一个单核苷酸变异。引入了floxed neo选择座,位于内含子序列,并通过随后与表达Cre的小鼠杂交去除。这种变异对应于人类中导致W93C疾病的基因突变。(来源:J:157645)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
Targeted
Insertion, Intragenic deletion, Single point
--
1
14
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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