为了产生这种突变等位基因,设计了一种ACN靶向载体,通过定点突变,将第1278位的arginine替换为proline(即p.R1278P)。ACN载体包含由精子特异性血管紧张素转换酶启动子驱动的neomycin抗性基因和cre重组酶基因,周围有loxP位点。在杂合雄性生殖细胞中,cre介导的重组会移除载体,留下一个位于第27号内含子的loxP位点。这种突变等同于人类的p.R1276P变异。(来源:J:94077)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Targeted
Insertion, Nucleotide substitutions
--
1
24
--

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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