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A C to T (CGC>TGC) change (g.143709671C>T) resulting in an arginine to cysteine substitution at amino acid 67 was introduced in the second coding exon. A loxP flanked neomycin resistance gene was inserted downstream of exon 2. Cre-mediated recombination removed the selection cassette. RT-PCR and Western blot analysis confirmed mRNA and protein expression in the brain. (J:292116)
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
