第9外显子被替换为一个经过修改的,其中的核苷酸变异导致无义突变,且在第423位氨基酸位置由 alanine 替换为 leucine(423L)。第10外显子也进行了替换,导致无义突变,第429位氨基酸位置由 alanine 改为 valine(429V)。通过Cre介导的重组,去除了插入在第9内含子中的floxed Neo抗药性基因座。(来源:J:226497)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJaeSor
Targeted
Insertion, Nucleotide substitutions
--
1
25
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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