Phenotypes associated with this allele

• Allele Symbol: Pex13^tm1.1Crne
• Allele Name: targeted mutation 1.1, Denis I Crane
• Allele ID: MGI:2384515
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pex13^tm1.1Crne/Pex13^tm1.1Crne	involves: 129T2/SvEms * C57BL/6J	MGI:3722830
cn2	Pex13^tm1Crne/Pex13^tm1.1Crne Tg(Nes-cre)1Kln/0	involves: 129T2/SvEms * C57BL/6 * C57BL/6J * SJL	MGI:5636606

Genotype
MGI:3722830

hm1

• 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

Genotype
MGI:5636606

cn2

• Allelic Composition: Pex13^tm1Crne/Pex13^tm1.1Crne; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: 129T2/SvEms * C57BL/6 * C57BL/6J * SJL

mortality/aging

premature death ( J:167578 )

• 70.5% of mice die by 5 weeks of age, while 29.5% of mice die between 9-26 weeks of age

• body weight at time of weaning and litter size impact survival of mutants

growth/size/body

decreased body weight ( J:167578 )

• mice that die by 5 weeks of age exhibit a lower body weight than mice that survive to 9-26 weeks of age

weight loss ( J:167578 )

• 29.5% of mice show post-weaning onset of weight loss and die between 9-26 weeks of age

postnatal growth retardation ( J:167578 )

• 70.5% of mice exhibit growth retardation during the pre-weaning period and die by 5 weeks of age

behavior/neurological

abnormal reflex ( J:167578 )

• mice at P20 exhibit a delay in the pattern of acquisition of the majority of tested behaviors (negative geotaxis, cliff avoidance, vibrissa placing, grasp reflex, hyperkinesias, crossed extensor, acceleration righting and bar holding) with gradual improvement, suggesting a delay rather than ablation of reflex development

limb grasping ( J:167578 )

• mice exhibit an inability to splay hind limbs when lifted by the tail

impaired coordination ( J:167578 )

• 7 of 11 mice show impaired performance on the rotarod, which is still seen at P30

cellular

abnormal Purkinje cell differentiation ( J:167578 )

abnormal cerebellar granule cell migration ( J:167578 )

• by P15, migration of granule cells from the external granule layer through the molecular layer to the internal granule layer is delayed

homeostasis/metabolism

abnormal fatty acids level ( J:167578 )

• very-long-chain-fatty acid levels (C26:0/C22:0 ratio) in the brain are normal, however the C24:0/C22:0 ratio is reduced by 40%

decreased brain plasmalogen level ( J:167578 )

• levels of brain C16:0 and C18:0 plasmalogens are reduced 20- and 40-fold, respectively in the brain

increased plasmalogen level ( J:167578 )

• levels of liver C16:0 plasmalogens are elevated 3-fold and C18:0 plasmalogens are slight increased

abnormal enzyme/coenzyme activity ( J:167578 )

• brain peroxisomal enzymes dihydroxyacetone phosphate acyltransferase (DHAP-AT) and alkyl-DHAP synthase are reduced

• 5-fold increase in liver DHAP-AT activity

nervous system

abnormal cerebellar granule cell migration ( J:167578 )

• by P15, migration of granule cells from the external granule layer through the molecular layer to the internal granule layer is delayed

decreased brain plasmalogen level ( J:167578 )

• levels of brain C16:0 and C18:0 plasmalogens are reduced 20- and 40-fold, respectively in the brain

abnormal cerebellum development ( J:167578 )

• formation of cerebellar layers is delayed

reduced cerebellar foliation ( J:167578 )

• at P20, mutants show only partial development of the declival, intercrural and uvular fissures and impaired cerebellum foliation persists beyond P20, until at least P30

abnormal cerebellum external granule cell layer morphology ( J:167578 )

• the external granule layer is thicker at P15 and still is more evident at P20, the internal granule layer is thinner at P20, and the molecular layer is thinner at P20 and P30

abnormal cerebellar Purkinje cell layer ( J:167578 )

• mutants do not exhibit a distinct Purkinje cell monolayer and show only small dendritic processes without forming a main dendrite at P5

• at P10, Purkinje cell somata are not aligned in a strict monolayer and small dendritic processes and spines arise randomly

abnormal Purkinje cell morphology ( J:167578 )

• total length of Purkinje cells is decreased at P15, P20, and P30

abnormal Purkinje cell differentiation ( J:167578 )

abnormal Purkinje cell dendrite morphology ( J:167578 )

• at P10, Purkinje cells show two main dendritic processes, the degree of branching is irregular and less complex, and dendrites are not in parallel alignment

thin cerebellar molecular layer ( J:167578 )

• thinner at P20 and P30

abnormal cerebellum fissure morphology ( J:167578 )

• some mutants at P10 lack the declival, intercrural and uvular fissures that develop in controls and show shallower intercrural, precentral, primary, and prepyramidal fissures

• by P15, the declival, intercrural and uvular fissures have still not formed in some mutants and P20 mutants show shallower declival, intercrural, uvular and posterolateral fissures

gliosis ( J:167578 )

• reactive gliosis in the cerebellum, cortex, and brain stem

astrocytosis ( J:167578 )

skeleton

kyphosis ( J:167578 )

• older mice exhibit a hunchback posture