Mutations in the human PEX10 gene cause Zellweger spectrum of Peroxisome Biogenesis Disorder types 6A and 6B. These chemically-induced (ENU) mutant mice carry a single G to A base pair change in the Pex10 gene, resulting in a C294Y amino acid change that disrupts the second zinc RING finger binding domain. Most (98%) homozygotes die within hours of birth. Homozygous embryos begin to exhibit reduced locomotion at E17.5, and at birth are cyanoic and have no milk in their stomachs. Surviving homozygotes are significantly smaller in size than wildtype controls and display an ataxic gait. Very long chain fatty acids (VLCFA) levels are approximately 10-fold higher, and plasmalogen levels are approximately 21-fold lower in E18.5 homozygous embryos. Defective axon bundling by Schwann cells and axonal defects are observed in the sciatic nerves of homozygous embryos. Defects in neuromuscular synapses are found in soleus muscles, while deficits in axon extension, abnormal Schwann cell location and fewer Schwann cells in diaphragm muscles are also noted.
Fibroblasts from homozygous embryos exhibit diffuse immunolabeling of the peroxisomal marker, catalase, compared to the punctate immunolabeling pattern observed in fibroblasts from wildtype control mice. During backcrossing, the Y chromosome may not have been fixed to the 129S1/SvImJ genetic background.

Pex10CY mice carry an ENU-generated point mutation of the Pex10 gene, exhibit abnormal neurodevelopment, and may be useful in studies of peroxisomal biogenesis disorders.

A minimum of two mice must be ordered. Additional mice will be charged on a per-mouse basis. Click the “Details” button to learn more.

Our minimum guarantee for cryorecovery orders is 2 carriers. To ensure that your colony can be rapidly expanded upon arrival, additional carriers may be added to your order.