这个靶向载体包含了在第8内含子中插入的loxP引导的诺卡因,以及在第8外显子插入的PEEXI氨基酸替换,L558E(赖氨酸替换为天冬氨酸,CTG替换为GAG)和V559E(缬氨酸替换为天冬氨酸,GTA替换为GAA)。Cre介导的重组移除了诺卡因基因座。这个突变对应于人类的BARD1-PEELI变异(来源:J:94077)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x 129S6/SvEvTac)F1
Targeted
核苷酸替换
--
1
3
--

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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