Exon 2被替换为一个修改过的Exon 2,其中C到G的点突变导致第67位的氨基酸由天冬氨酸替换为组氨酸(p.H67D)。这个突变复制了人类Hereditary Hemochromatosis(HH)中许多患者观察到的p.H63D变异。通过Cre介导的重组,去除了内含子2中由loxP序列标记的诺卡因抗性基因元件。(来源:J:201948)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Single point
--
1
14
4

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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