Pex1 or peroxisomal biogenesis factor 1 encodes a member of the AAA ATPase family that is often anchored to a peroxisomal membrane where it forms a heteromeric complex involved in peroxisome biogenesis. The G843D mutation in PEX1 is associated with a mild form of Zellweger spectrum disorder (ZSD), a neurodevelopmental disorder that affects brain development, liver, adrenal and kidney function as well as vision and hearing. 20-30% of ZSD patients carry at least one G843D allele. Mice homozygous for the orthologous mouse mutation Pex1-G844D exhibit growth retardation and decreased body weight. Slightly less than 50% of mice have a median age of death of 22 days; the remaining mice live to almost one year of age. In the adult mouse, cone photoreceptors are degenerated. B wave amplitudes in both rod and cone visual systems are reduced or absent (respectively). Similar to human ZSD patients, homozygous mice have a bile acid defect associated with intestinal fat malabsorption, fatty livers and cholestasis. In addition to the G844D amino acid substitution in exon 15, this Pex1 allele possesses loxP sites for the creation of conditional knock out animals. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exons 12-13 deleted in the cre-expressing tissues. This strain may be useful for studying Zellweger spectrum disorder. &nbsp;

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These Pex1-G844D mice exhibit phenotypes consistent with several features of the mild form of Zellweger spectrum disorder (ZSD) including: growth retardation, shortened life expectancy, fatty livers with cholestasis and retinopathy. In addition, this Pex1 allele possesses loxP sites for the creation of conditional knock out animals.

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