第九外显子被替换为一个,其中由TCT替换为GCC的核苷酸变异导致第312位的丝氨酸被阿尔法氨基酸(苏氨酸)替换为阿尔法(Alanine,p.S312A)。下游插入了由Cre介导的重组去除了一个含诺卡霉素抗性基因座的loxP序列标记的区域,该基因座位于修改后的第九外显子之后。(来源:J:166152)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
65
2

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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