Phenotypes Associated with This Genotype

Genotype
MGI:3042895

• Allelic Composition: Pex11b^tm1Sjg/Pex11b^tm1Sjg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:76782 )

• died within the first day after birth

behavior/neurological

abnormal suckling behavior ( J:76782 )

• suckled poorly

cellular

increased mitochondrial number ( J:76782 )

• some mitochondrial proliferation seen

abnormal peroxisome morphology ( J:76782 )

• peroxisome number about 1/2 normal

• increased clustering and elongation of peroxisomes

abnormal peroxisome physiology ( J:76782 )

• very mild defects in peroxisomal metabolic functions

• no abnormalities in peroxisomal protein import

craniofacial

craniofacial phenotype ( J:76782 )

N • lack the facial dysmorphism expected in Zellweger Syndrome

abnormal neurocranium morphology ( J:76782 )

• delayed ossification of calvaria

growth/size/body

decreased body size ( J:76782 )

• mice were 80% of normal size at birth

decreased body weight ( J:76782 )

• mice were only 60% of normal body weight at birth

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:76782 )

N • no very long chain fatty acid accumulation occurred as would be expected in Zellweger Syndrome

decreased liver glycogen level ( J:76782 )

• decreased levels of glycogen in the liver

liver/biliary system

decreased liver glycogen level ( J:76782 )

• decreased levels of glycogen in the liver

delayed hepatic development ( J:76782 )

• focal mosaic pattern of developmental delay

skeleton

abnormal neurocranium morphology ( J:76782 )

• delayed ossification of calvaria

nervous system

abnormal cerebral cortex morphology ( J:76782 )

• focal areas of decreased neuronal migration in neocortex

• increase in intermediate zone and layer V neurons

• reduced thickness of cortical plate with structural alterations as well

• abnormalities are seen embryonically as well (day not stated)

• enhanced neuronal apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Zellweger syndrome		DOID:905		J:76782