这些核苷酸变异(在NM_009347中的c.5458C>T和c.5471G>A)导致了第1820位氨基酸从赖氨酸变为苯丙氨酸(即p.L1820F),第1824位从甘氨酸变为天冬氨酸(即p.G1824D)的改变。通过Cre介导的重组,删除了带有loxP序列的诺瓦克林抗性基因元件,该元件也一同插入了。(来源:J:203482)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv-Gpi1c
Targeted
Insertion, Nucleotide substitutions
--
1
7
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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