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Phenotypes Associated with This Genotype
Genotype
MGI:5571189
Allelic
Composition
Pex1tm1.1Sjms/Pex1tm1.1Sjms
Genetic
Background
involves: 129 * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex1tm1.1Sjms mutation (2 available); any Pex1 mutation (59 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• contents of large intestine are bulky and yellow-colored

endocrine/exocrine glands

growth/size/body
• body weights for both male and female mice are significantly lower than controls at 7 days of age
• growth retardation persists throughout life

homeostasis/metabolism
• contents of large intestine are bulky and yellow-colored
• PE plasmologen level is 0.53-fold reduced as compared to controls
• bile acid intermediates, DHCA and THCA, are significantly elevated in feces, plasma and liver
• docosohexanenoic acid (DHA) levels are decreased as compared to controls
• very long chain fatty acid (VLCFA) levels are elevated in spleen, but not lung or kidney, as compared to controls
• percentages of C26:0, C26:1, C26:2 fatty acids are higher than in controls
• 20:4/22:6 fatty acid ratio is elevated
• mean amount of C26:0-LPC is increased

liver/biliary system
• increase in hepatocyte cytoplasmic volume associated with microvesicular fat deposition observed in 15 day old mice

mortality/aging
• 41% of homozygotes die prematurely
• mice fall into two categories of survival
• mice with shorter term survival have a median age of death of 22 days
• mice with longer term survival have a median age of death of 271 days

nervous system
• reduced immunoreactivity using rhodopsin staining
• cone photoreceptors are present at 3 weeks of age but degenerated in adult mice

vision/eye
• reduced immunoreactivity using rhodopsin staining
• cone photoreceptors are present at 3 weeks of age but degenerated in adult mice
• b-wave amplitudes are almost absent
• b-wave amplitudes are reduced

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Zellweger syndrome DOID:905 J:210296


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
03/19/2024
MGI 6.23
The Jackson Laboratory