在第4和5外显子被替换,通过插入导致了氨基酸位置117、161和162由赖氨酸变为arginine的核苷酸变异(p.K117R(c.350_351delAGinsGA)、p.K161R和p.K162R(c.482_486delAGAAGinsGGAGA)。一个由Cre介导的重组去除了位于两个改造外显子之间的loxP序列引导的诺卡因抗性基因座。(来源:J:186159)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
65
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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