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A floxed neo cassette was inserted upstream of exon 46 and exon 47 was replaced with a human exon 47 containing 11 CAG repeats. A splice site mutation was inserted flanking the repeat region preventing production of the MPc and MPII isoforms. Cre meditated recombination removed the floxed neo cassette. Quantitative RT-PCR detected similar levels of expression of transcript in the cerebellum of homozygous mutant and wild-type mice. Sequencing of cDNAs from cerebellar extracts confirmed the absence of the MPc and MPII isoforms in homozygous mice. (J:190729)
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
