Phenotypes Associated with This Genotype

Genotype
MGI:5571189

• Allelic Composition: Pex1^tm1.1Sjms/Pex1^tm1.1Sjms
• Genetic Background: involves: 129 * C57BL/6N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

digestive/alimentary system

abnormal intestinal lipid absorption ( J:210296 )

• contents of large intestine are bulky and yellow-colored

endocrine/exocrine glands

bile duct proliferation ( J:210296 )

growth/size/body

decreased body weight ( J:210296 )

• body weights for both male and female mice are significantly lower than controls at 7 days of age

postnatal growth retardation ( J:210296 )

• growth retardation persists throughout life

homeostasis/metabolism

abnormal intestinal lipid absorption ( J:210296 )

• contents of large intestine are bulky and yellow-colored

abnormal circulating phospholipid level ( J:210296 )

• PE plasmologen level is 0.53-fold reduced as compared to controls

abnormal bile salt homeostasis ( J:210296 )

• bile acid intermediates, DHCA and THCA, are significantly elevated in feces, plasma and liver

decreased fatty acids level ( J:210296 )

• docosohexanenoic acid (DHA) levels are decreased as compared to controls

increased fatty acids level ( J:210296 )

• very long chain fatty acid (VLCFA) levels are elevated in spleen, but not lung or kidney, as compared to controls

increased saturated fatty acids level ( J:210296 )

• 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

bile duct proliferation ( J:210296 )

microvesicular hepatic steatosis ( J:210296 )

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

cholestasis ( J:210296 )

mortality/aging

premature death ( J:210296 )

• 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

abnormal retina rod cell outer segment morphology ( J:210296 )

• reduced immunoreactivity using rhodopsin staining

retina cone cell degeneration ( J:210296 )

• cone photoreceptors are present at 3 weeks of age but degenerated in adult mice

vision/eye

abnormal retina rod cell outer segment morphology ( J:210296 )

• reduced immunoreactivity using rhodopsin staining

retina cone cell degeneration ( J:210296 )

• cone photoreceptors are present at 3 weeks of age but degenerated in adult mice

abnormal cone electrophysiology ( J:210296 )

• b-wave amplitudes are almost absent

abnormal rod electrophysiology ( J:210296 )

• b-wave amplitudes are reduced

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