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A modified exon 48 containing a valine to phenylalanine (V2475F) mutation and a translationally silent Mlu-I restriction site replaced the endogenous exon. A loxP-flanked neomycin cassette was also inserted downstream of the modified exon and was subsequently removed by mating founder mice with EIIa-cre transgenic mice. (J:212870)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
