第12外显子被替换为一个修改过的外显子,其中的核苷酸替换(由CAGC变为AGCA)导致了第478位氨基酸由丝氨酸(Ser)变为 alanine(Ala)的改变,即S478A。通过Cre介导的重组,去除了位于修改后第12外显子下游的floxed neo cassette。(引用:J:193542)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6J x 129S4/SvJae)F1
Targeted
Insertion, Nucleotide substitutions
--
1
5
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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