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An endoplasmic reticulum retention signal (KDEL) followed by a STOP codon and floxed neo cassette was inserted into exon 7 after codon E749. This exon encodes the GAG-alpha domain. Germ line, cre mediated recombination removed the neo cassette. Quantitative RT-PCR on brain extracts confirmed a 90% reduction in isoform V2 transcript expression and a decline of isoform V0 transcript to 20% (at P0) or 50% (at P30 and P100) of the levels in wild-type mice. Transcript expression of isoform V1 and V3 is unaffected. Immunohistochemistry confirmed the absence of protein expression of isoforms V0 and V2. (J:150124)
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
