第二和第三个编码外显子被一套融合的外显子替换,其中包含导致第630位和716位氨基酸由arginine变为lysine的两个核苷酸变异。在最后一个编码外显子之间插入了一个floxed neo cassette,随后由Cre介导的重组移除了neo cassette。(来源:J:186503)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Nucleotide substitutions
--
1
10
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
No Data Found!
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