Phenotypes associated with this allele

• Allele Symbol: Pex2^tm1Plf
• Allele Name: targeted mutation 1, Phyllis L Faust
• Allele ID: MGI:2180128
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pex2^tm1Plf/Pex2^tm1Plf	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3040640
hm2	Pex2^tm1Plf/Pex2^tm1Plf	involves: 129S1/Sv * 129X1/SvJ * Swiss Webster	MGI:3040637

Genotype
MGI:3040640

hm1

• 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

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

Genotype
MGI:3040637

hm2

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

mortality/aging

postnatal lethality, complete penetrance ( J:83644 )

• 20-30% survival to 7-10 days

• rare individuals survive to 15-18 days

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:83644 )

limb grasping ( J:83644 )

• clasp their hind limbs when lifted by the tail

impaired balance ( J:83644 )

• fall over readily

abnormal gait ( J:83644 )

• abnormal gait seen in mice over 7-9 days of age

growth/size/body

microcephaly ( J:83644 )

postnatal growth retardation ( J:83644 )

• severely growth retarded

• 5-10 day old mice only 20-35% the size of controls

homeostasis/metabolism

decreased cholesterol level ( J:87591 )

• cholesterol levels in liver and other tissue reduced about 40%

decreased circulating cholesterol level ( J:87591 )

decreased circulating HDL cholesterol level ( J:87591 )

decreased liver cholesterol level ( J:87591 )

• cholesterol levels in liver reduced about 40%

liver/biliary system

abnormal liver morphology ( J:83644 )

decreased liver cholesterol level ( J:87591 )

• cholesterol levels in liver reduced about 40%

hepatic steatosis ( J:83644 )

• increased fat content of the liver in the early postnatal period

cholestasis ( J:83644 )

abnormal bile composition ( J:87591 )

• abnormal bile acid formation may result in malabsorption syndrome

abnormal liver physiology ( J:87591 )

renal/urinary system

abnormal kidney physiology ( J:83644 )

• renal dysfunction in terminal stages

nervous system

decreased brain size ( J:83644 )

• brains are about 65% of control at 5-10 days

abnormal cerebellum morphology ( J:83644 )

abnormal cerebellar foliation ( J:83644 )

• delays in folial development detectable as early as age 3 days and persist to day 18

abnormal cerebellum external granule cell layer morphology ( J:83644 )

• delayed cellular accumulation and a slower cell loss

• thicker than normal at day 8 and gone at day 18 in the only mouse looked at

• migration of granule neurons both delayed and very slow

abnormal Purkinje cell morphology ( J:83644 )

• irregularly shaped and not well aligned at day 8

• alignment improves at day 15 but still with an immature appearance

• slow maturation and less branching of dendrites

abnormal cerebellar granule layer morphology ( J:83644 )

• layer thin at day 8 but normal at day 10

• impaired granule neuron survival

small cerebellum ( J:83644 )

• cerebellar growth normal until age 5 days but slows down after day 7