第21外显子(或第18外显子,依据转录本不同)被替换为一个经过A到G的点突变,导致第454位的赖氨酸被替换为arginine(即K454R)的突变版本。下游的FRT引导的neo cassette通过flp介导的重组被去除了。(来源:J:165360)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6 x 129S/SvEv
Targeted
Insertion, Single point
--
1
--
5

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
No Data Found!
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