7号外显子的核苷酸替换导致了第212位氨基酸由色氨酸替换为天冬氨酸(Asp212N)。下游插入了一个含floxed neo cassette的neo cassette。通过Cre介导的重组,neo cassette被去除,使得敲入转录本得以表达。这个敲入产物在 caspase 活性上存在缺陷。(来源:J:171914)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Nucleotide substitutions
--
1
3
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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