About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pex11btm1Sjg
targeted mutation 1, Stephen J Gould
MGI:2181008
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pex11btm1Sjg/Pex11btm1Sjg B6.129-Pex11btm1Sjg MGI:5307126
hm2
Pex11btm1Sjg/Pex11btm1Sjg involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3042895
ht3
Pex11btm1Sjg/Pex11b+ B6.129-Pex11btm1Sjg MGI:5307125
cx4
Pex11atm1Sjg/Pex11atm1Sjg
Pex11btm1Sjg/Pex11btm1Sjg
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3042891


Genotype
MGI:5307126
hm1
Allelic
Composition
Pex11btm1Sjg/Pex11btm1Sjg
Genetic
Background
B6.129-Pex11btm1Sjg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex11btm1Sjg mutation (0 available); any Pex11b mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• primary neuronal cultures from the neocortex and cerebellum exhibit higher levels of apoptosis than wild-type cultures
• mutants exhibit a higher number of TUNEL-positive neurons in the medial neocortex and cerebellum than wild-type mice
• marker analysis indicates that mutants exhibit a delay in neuronal differentiation
• mutants exhibit an increase in oxidative stress in brain sections and primary neural cultures

nervous system
• primary neuronal cultures from the neocortex and cerebellum exhibit higher levels of apoptosis than wild-type cultures
• mutants exhibit a higher number of TUNEL-positive neurons in the medial neocortex and cerebellum than wild-type mice
• marker analysis indicates that mutants exhibit a delay in neuronal differentiation
• brain sections from E19 fetuses exhibit a 50% reduction in the number of peroxisomes/area in the medial and lateral neocortex compared to wild-type mice
• brain sections from E19 fetuses exhibit a 30% reduction in the number of peroxisomes/area in the cerebellum compared to wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Zellweger syndrome DOID:905 J:180632




Genotype
MGI:3042895
hm2
Allelic
Composition
Pex11btm1Sjg/Pex11btm1Sjg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex11btm1Sjg mutation (0 available); any Pex11b mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• died within the first day after birth

behavior/neurological
• suckled poorly

cellular
• peroxisome number about 1/2 normal
• increased clustering and elongation of peroxisomes
• some mitochondrial proliferation seen
• very mild defects in peroxisomal metabolic functions
• no abnormalities in peroxisomal protein import

craniofacial
N
• lack the facial dysmorphism expected in Zellweger Syndrome
• delayed ossification of calvaria

growth/size/body
• mice were 80% of normal size at birth
• mice were only 60% of normal body weight at birth

homeostasis/metabolism
N
• no very long chain fatty acid accumulation occurred as would be expected in Zellweger Syndrome
• decreased levels of glycogen in the liver

liver/biliary system
• decreased levels of glycogen in the liver
• focal mosaic pattern of developmental delay

skeleton
• delayed ossification of calvaria

nervous system
• 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




Genotype
MGI:5307125
ht3
Allelic
Composition
Pex11btm1Sjg/Pex11b+
Genetic
Background
B6.129-Pex11btm1Sjg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex11btm1Sjg mutation (0 available); any Pex11b mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• primary neuronal cultures from the neocortex and cerebellum exhibit higher levels of apoptosis than wild-type cultures but not as high as in homozygous cultures
• mutants exhibit a higher number of TUNEL-positive neurons in the medial neocortex and cerebellumthan wild-type mice, although levels are much lower than in homozygotes
• marker analysis indicates that mutants exhibit a delay in neuronal differentiation, but to a smaller extent than in homozygotes
• mutants exhibit an increase in oxidative stress in brain sections and primary neural cultures, but less than in homozygotes

nervous system
• primary neuronal cultures from the neocortex and cerebellum exhibit higher levels of apoptosis than wild-type cultures but not as high as in homozygous cultures
• mutants exhibit a higher number of TUNEL-positive neurons in the medial neocortex and cerebellumthan wild-type mice, although levels are much lower than in homozygotes
• marker analysis indicates that mutants exhibit a delay in neuronal differentiation, but to a smaller extent than in homozygotes
• brain sections from E19 fetuses exhibit a 15% increase in the number of peroxisomes/area in the cerebellum and medial neocortex
• brain sections from E19 fetuses exhibit a 15% increase in the number of peroxisomes/area in the cerebellum and medial neocortex

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Zellweger syndrome DOID:905 J:180632




Genotype
MGI:3042891
cx4
Allelic
Composition
Pex11atm1Sjg/Pex11atm1Sjg
Pex11btm1Sjg/Pex11btm1Sjg
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex11atm1Sjg mutation (0 available); any Pex11a mutation (5 available)
Pex11btm1Sjg mutation (0 available); any Pex11b mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cellular
• peroxisome number about 1/2 normal, about the same as in Pex11bTm1Sjg homozygotes
• very mild defects in peroxisomal metabolic functions
• no abnormalities in peroxisomal protein import

growth/size/body





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/10/2022
MGI 6.19
The Jackson Laboratory