Phenotypes Associated with This Genotype

Genotype
MGI:3040640

• Allelic Composition: Pex2^tm1Plf/Pex2^tm1Plf
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Variable size of and cranial abnormalities in Pex2^tm1Plf/Pex2^tm1Plf mice

mortality/aging

postnatal lethality, complete penetrance ( J:44975 )

• normal numbers of homozygotes at birth

• no survivors at 3-4 weeks

neonatal lethality, incomplete penetrance ( J:44975 )

• most died within the first 12 hours of birth while some survived 1-2 days

embryo

decreased embryo weight ( J:44975 )

• approximately 29% weight reduction in utero compared to littermate controls

behavior/neurological

behavior/neurological phenotype ( J:44975 )

N • no seizures

N • respond normally to noxious stimuli

aphagia ( J:44975 )

• newborn mice did not feed

abnormal motor capabilities/coordination/movement ( J:44975 )

impaired balance ( J:44975 )

• fall over readily

trunk curl ( J:44975 )

• maintain a contracted "C" shaped posture

abnormal head movements ( J:44975 )

• lift their heads poorly

decreased locomotor activity ( J:44975 )

craniofacial

abnormal neurocranium morphology ( J:44975 )

• slight enlargement of fontanelle space

abnormal frontal bone morphology ( J:44975 )

• reduction of bone density in medial frontal bone

abnormal interparietal bone morphology ( J:44975 )

• reduction of bone desnity in interparietal bone

endocrine/exocrine glands

abnormal adrenal cortex morphology ( J:44975 )

• clear clefts were found in deeper cells of the adrenal cortex

growth/size/body

abnormal frontal bone morphology ( J:44975 )

• reduction of bone density in medial frontal bone

decreased embryo weight ( J:44975 )

• approximately 29% weight reduction in utero compared to littermate controls

homeostasis/metabolism

decreased circulating cholesterol level ( J:87591 )

abnormal circulating free fatty acids level ( J:44975 )

• increased saturated and monounsaturated very long chain fatty acids in the plasma

liver/biliary system

abnormal liver morphology ( J:44975 )

• absence of peroxisomes in the liver

skeleton

abnormal neurocranium morphology ( J:44975 )

• slight enlargement of fontanelle space

abnormal frontal bone morphology ( J:44975 )

• reduction of bone density in medial frontal bone

abnormal interparietal bone morphology ( J:44975 )

• reduction of bone desnity in interparietal bone

decreased bone mineral density ( J:44975 )

• reduction in bone density in medial frontal and interparietal bone

decreased bone mineralization ( J:44975 )

• less extensive mineralization

delayed intramembranous bone ossification ( J:44975 )

• delay in membranous ossification

nervous system

abnormal brain white matter morphology ( J:44975 )

• increased cellular density in the white matter

abnormal stratification in cerebral cortex ( J:44975 )

• lack of normal layering in the cortical plate

• severe effacement of laminations in medial cortical regions