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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pex10m1Nisw
mutation 1, Lee Niswander
MGI:5638060
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pex10m1Nisw/Pex10m1Nisw 129S1.B6-Pex10m1Nisw MGI:5639122
ht2
Pex10m1Nisw/Pex10+ 129S1.B6-Pex10m1Nisw MGI:5639146


Genotype
MGI:5639122
hm1
Allelic
Composition
Pex10m1Nisw/Pex10m1Nisw
Genetic
Background
129S1.B6-Pex10m1Nisw
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex10m1Nisw mutation (1 available); any Pex10 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• majority of mice die within a few hours after birth due to an inability to breathe
• less than 2% of mice survive to adulthood

cellular
• abnormal, increased axon extension is progressive and is more pronounced in E18.5 embryos
• some phrenic axons from diaphragm muscle of E15.5 embryos extend abnormally beyond acetylcholine receptor (AChR) clusters
• sciatic axons from hindlimbs of E18.5 embryos lack conventional axon bundling
• Schwann cells appear to be absent from sciatic axon bundles
• cells near axon bundles are flattened and fibroblast-like

growth/size/body
• surviving mice are decreased in size and weight

homeostasis/metabolism
• majority of mice exhibit an inability to breathe at birth
• levels of peroxisome bile acid intermediates (DHCA and THCA) assayed in E18.5 embryos are increased 11- and 28- fold, respectively, as compared to controls
• plasma VLCFA levels assayed in E18.5 embryos are 10-fold higher than controls
• total plasmalogen levels assayed in E18.5 embryos are 21-fold lower than controls

behavior/neurological
• surviving mice have an ataxic gait
• progressive loss of limb movement in majority of embryos from E17.5 to birth as assessed by touch response
• observed in majority of E19.5 embryos
• observed in majority of E18.5 embryos

nervous system
• some phrenic axons from diaphragm muscle of E15.5 embryos extend abnormally beyond acetylcholine receptor (AChR) clusters
• abnormal, increased axon extension is progressive and is more pronounced in E18.5 embryos
• sciatic axons from hindlimbs of E18.5 embryos lack conventional axon bundling
• Schwann cells appear to be absent from sciatic axon bundles
• cells near axon bundles are flattened and fibroblast-like
• Schwann cells appear to be absent from sciatic axons
• Schwann cell number, as determined by labeling, indicates the appearance of some cells around the perimeter, but greatly reduced numbers in central regions of the nerve, however, Schwann cell number is similar to controls in E15.5 embryos
• cells near axon bundles are flattened and fibroblast-like
• numbers of Schwann cells located terminally or adjacent to axons or associated with AChR clusters are decreased in diaphragms of E18.5 embryos
• decrease in medium neurofilaments, a measure of axon integrity, in white matter region of the lumbar level of the spinal cord in E18.5 embryos with immobile hindlimbs, but mobile forelimbs
• neuromuscular junctions from the soleus muscle of E18.5 embryos exhibit decreased co-localization of axons with AChR clusters as compared to wild-type
• endplate potential amplitudes induced by stimulation of the phrenic nerve are decreased in E18.5 embryos

respiratory system
• majority of mice exhibit an inability to breathe at birth




Genotype
MGI:5639146
ht2
Allelic
Composition
Pex10m1Nisw/Pex10+
Genetic
Background
129S1.B6-Pex10m1Nisw
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex10m1Nisw mutation (1 available); any Pex10 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• levels of THCA, a peroxisome bile acid intermediate, assayed in E18.5 embryos and adult females are increased as compared to controls
• total plasmalogen levels assayed in E18.5 embryos are lower than controls





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory