Mouse Genome Informatics
hm
    Pex1tm1.1Sjms/Pex1tm1.1Sjms
involves: 129 * C57BL/6N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
digestive/alimentary system
• contents of large intestine are bulky and yellow-colored

growth/size
• 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
OMIM IDRef(s)
Peroxisome Biogenesis Disorder 1a (zellweger); PBD1A 214100 J:210296