A cassette containing lacZ and neo genes was inserted into the isoform-specific exon 2. By targeting exon 2, transcription of the isoform most prominent in brain tissue is ablated, while the isoform which is produced from a transcript in which exon 1b splices to exon 3, and is most abundant in skeletal muscle, is unaffected. RT-PCR analysis confirmed that the transcript encoding the targeted isoform was absent and that the level of transcript encoding the isoform that is most prominent in skeletal muscle was normal. X-gal staining showed that beta-galactosidase is expressed via the endogenous promoter. (J:77613)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion
--
1
--
1

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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