Version: 8.0.0
Date: Tue Jan 28 2025
Cyp27b1tm1Star
MGI:2182334
Allele of Cyp27b1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Cyp27b1tm1Star

Species
Mus musculus
Symbol
Cyp27b1tm1Star
Category
allele
Allele of gene
Cyp27b1
Transgenic Constructs
None
Synonyms
  • 1alpha-(OH)ase-
  • 1alpha-OHase-
Description
A floxed region containing exon 8 was excised via the expression of cre recombinase in vitro. The deleted region encoded the heme-binding domain. RT-PCR analysis of total renal RNA identified the presence of a truncated transcript in homozygous mutant mice. The absence of active vitamin D3 in serum samples was identified by an radioimmunoassay and indicates that the aberrant transcript present in homozgous mutant mice is non-functional.
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
    Annotation details
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