Allele/Variant

Pex1tm1.1Hrw

Species
Mus musculus
Symbol
Pex1tm1.1Hrw
Category
allele
Allele of gene
Pex1
Transgenic Constructs
None
Synonyms
  • Pex1-G844D
Description
A targeting vector was designed to insert an exon 15 with the G to A mutation at position 2531 coding for the glycine to aspartate substitution at amino acid 844 (G844D) and a puromycin resistance gene flanked by FRT sites in intron 15. The selection maker was removed via Flp-mediated recombination. This is equivalent to the most commonly found mutant allele (G843D) in patients with Zellweger spectrum disorder.
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
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