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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pex1tm1.1Hrw
targeted mutation 1.1, Hans R Waterham
MGI:6390206
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pex1tm1.1Hrw/Pex1tm1.1Hrw involves: C57BL/6NTac MGI:6390207


Genotype
MGI:6390207
hm1
Allelic
Composition
Pex1tm1.1Hrw/Pex1tm1.1Hrw
Genetic
Background
involves: C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex1tm1.1Hrw mutation (0 available); any Pex1 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• approximate 20% survival rate after P20
• about 75% of mice die before P20, with 90% survival after the first 20 days

growth/size/body
• pups are smaller at P3 but not P0
• both males and females show growth delay in the first 100 postnatal days beginning at P3
• growth delay remains throughout life
• hepatomegaly at 3 and 6 months of age

liver/biliary system
• P15 livers show bile duct proliferation
• P15 livers show numerous inflammatory cells
• livers exhibit aberrant mitochondria, including swollen mitochondria with abnormal cristae and no peroxisomes
• accumulation of bile pigment in livers at P0 but not at later stages
• P15 livers shows single cell necrosis, bile duct proliferation and numerous inflammatory cells
• hepatomegaly at 3 and 6 months of age
• decrease in glycogen in the liver at P10, P15 and 3 months of age
• liver tissues show accumulation of small vesicles composed of triglycerides/cholesterol esters at 3 and 6 months of age
• liver tissues show accumulation of small vesicles composed of triglycerides/cholesterol esters at 3 and 6 months of age
• 3 and 6 month old livers show fibrosis
• 3 month old livers show early stages of cellular dysplasia and by 6 months, livers show a transition of normal hepatocytes to a focus of cellular alternation with increased nucleus-cytoplasm ratio indicating hepatic adenoma
• cholestatic liver

homeostasis/metabolism
• plasma glucose levels are decreased at P0 and P5, indicating hyperglycemia
• intravascular coagulation and formation of thrombi with complete occlusion of the veins at different sites of the body at different ages
• decrease in glycogen in the liver at P10, P15 and 3 months of age
• defective bile acid biosynthesis
• elevations of unconjugated and tauro-conjugated C24-bile acids in the liver at all ages
• elevations of unconjugated C27-bile acids and decreased levels of tauro-conjugated C24-bile acids in plasma at P10 but not in adults
• C27-bile acids in the liver primarily occur in the unconjugated form
• unconjugated C27-bile acid intermediates are increased in plasma, spleen, heart, and kidney but not detectable in the brain at 3 and 6 months of age
• liver tissues show accumulation of small vesicles composed of triglycerides/cholesterol esters at 3 and 6 months of age
• elevations in levels of C26:0 very long chain fatty acids and increased C26:0/C22:0 ratios in the liver
• elevations in levels of C26:0-lysophosphatidylcholine
• levels of branched-chain fatty acids phytanic and pristanic acid are increased in livers of 3 and 6 month old mice
• levels of poly-unsaturated fatty acid docosahexaenoic acid are reduced in most tissues at all ages
• plasmalogen levels are lower in livers at P0 but not at other times
• liver tissues show accumulation of small vesicles composed of triglycerides/cholesterol esters at 3 and 6 months of age

immune system
• venous vascular wall inflammation
• P15 livers show numerous inflammatory cells

behavior/neurological
• pups appear very weak at P3
• however, pups have normal milk spots in their stomachs

cardiovascular system
• venous vascular wall inflammation

cellular
• livers exhibit swollen mitochondria with abnormal cristae
• swollen mitochondria in livers
• no peroxisomes are seen in P5 livers, although they contain tiny vesicles
• P15 livers shows single cell necrosis, bile duct proliferation and numerous inflammatory cells
• decrease in the activities of respiratory chain complex I and complex II in the liver whereas activities of complex II and IV remain unchanged

endocrine/exocrine glands
• P15 livers show bile duct proliferation

neoplasm
• 3 month old livers show early stages of cellular dysplasia and by 6 months, livers show a transition of normal hepatocytes to a focus of cellular alternation with increased nucleus-cytoplasm ratio indicating hepatic adenoma

renal/urinary system
• nearly all mice show unilateral hydronephrosis at all ages

reproductive system
N
• males are fertile and are able to produce offspring after about 5 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Zellweger syndrome DOID:905 J:278655





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)
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last database update
05/17/2022
MGI 6.19
The Jackson Laboratory