在第20外显子被替换为一个,其中的核苷酸变异导致了993位和997位的赖氨酸被替换为histidine(即H993K和H997K)。插入了一个floxed neo cassette在修改后的外显子上游。通过 Western blot 分析确认了没有蛋白质表达。(来源:J:163902)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Insertion, Nucleotide substitutions
--
1
4
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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