Allele/Variant

Bptftm1.2Cwu

Species
Mus musculus
Symbol
Bptftm1.2Cwu
Category
allele
Allele of gene
Bptf
Transgenic Constructs
None
Synonyms
  • BptfdeltaExon2
Description
A loxP site was inserted upstream of exon 2, and a frt-flnaked neomycin cassette and a downstream loxP site was inserted downstream of exon 2. Transient cre recombinase expression removed exon 2 and the neomycin cassette. Despite the deletion, mRNA from the locus was still detected in heterozygous tissues including the brain and testis. Sequencing of exons 1-8 revealed the mRNA was out of frame indicating that this is a loss-of-function allele. This was confirmed through allelic complementation assays and by a lack of protein detectable in immunoblot assays.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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