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EN
Exon 2 was replaced with one in which murine nucleotides 459-698 were replaced by the corresponding human sequence (amino acids 79-160) containing a 24 bp duplication in the polyalanine tract (c.428_451dup24) generating a partially humanized exon 2. A loxP-flanked neomycin resistance cassette follows the modified exon 2 and was removed via cre-mediated recombination. Western blot analysis confirmed reduced protein expression. (J:262482)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
