A floxed neo cassette was inserted upstream of exon 46 and exon 47 was replaced with a modified human exon 47 containing 114 CAG repeats interrupted by 4 CAA units in multiple places. 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
Not Specified
Targeted
Insertion
--
1
15
2

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

References Literature

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PMID
Journal
Year
IF
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