Exon 10和11被替换成一个带有floxed neo cassette的序列,同时在11号外显子的1449位点插入了一个G到A的核苷酸替换,导致第439位的histidine被arginine替换(R439H)。neo cassette通过暂时的Cre介导的重组在ES细胞中被去除。这个突变是为了模拟人类中发现的R441H变异,它在PC12细胞中导致酶活性降低80%(来源:J:131619)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Single point
--
1
1
8

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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