Phenotypes Associated with This Genotype

Genotype
MGI:3722830

• Allelic Composition: Pex13^tm1.1Crne/Pex13^tm1.1Crne
• Genetic Background: involves: 129T2/SvEms * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:84795 )

• pups die soon after birth (6-12 hours)

growth/size/body

decreased body weight ( J:84795 )

• body weight of pups is 73% of wild-type

behavior/neurological

aphagia ( J:84795 )

• pups fail to feed

bradykinesia ( J:84795 )

• pups are hypoactive

cellular

abnormal mitochondrial morphology ( J:84795 )

• structure of mitochondria is abnormal

abnormal mitochondrial crista morphology ( J:84795 )

• abnormal cristae

abnormal peroxisome morphology ( J:84795 )

• lack morphologically intact peroxisomes

abnormal mitochondrial physiology ( J:167578 )

• cultured cerebellar neurons exhibit a 40% decrease in mitochondrial dehydrogenase activity

abnormal peroxisome physiology ( J:84795 )

• analysis of tissue and cultured skin fibroblasts indicate severe impairment of peroxisomal fatty acid oxidation and plasmalogen synthesis

oxidative stress ( J:167578 )

• cultured cerebellar neurons from E19 mice show increased oxidative stress and apoptosis

endocrine/exocrine glands

abnormal adrenocortical cell morphology ( J:84795 )

• myelin-like lipid structures are seen in some adrenocortical cells

liver/biliary system

macrovesicular hepatic steatosis ( J:84795 )

• hepatocytes exhibit an abundance of large lipid droplets

muscle

hypotonia ( J:84795 )

• severe hypotonia, with pups maintaining a contracted C posture

nervous system

abnormal cerebral cortex morphology ( J:84795 )

• brains show disordered lamination in the cerebral cortex

thin cerebral cortex ( J:84795 )

neuron degeneration ( J:84795 )

• much of the cortical mantle is densely populated by degenerating neurons characterized by small, round, hyperchromatic nuclei, often with a thin rim of amphophilic cytoplasm

renal/urinary system

abnormal podocyte foot process morphology ( J:84795 )

• podocyte foot processes are scarce

abnormal renal glomerulus morphology ( J:84795 )

• delayed differentiation of glomeruli as evidenced by the reduced size and capillary structure and paucity of podocyte foot processes

respiratory system

respiratory distress ( J:84795 )

• seen in a few rare cases