Phenotypes Associated with This Genotype

Genotype
MGI:4443126

• Allelic Composition: Pex7^tm1Nbra/Pex7^tm1Nbra
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:158845 )

• on a phytol supplemented diet several mice die

growth/size/body

decreased birth body size ( J:158845 )

• decrease in size compared to heterozygous littermates is detectable at birth

decreased birth weight ( J:158845 )

• decrease in weight compared to heterozygous littermates is detectable at birth

increased susceptibility to weight loss ( J:158845 )

• mice that die on a phytol supplemented diet lose weight for several days prior to death

decreased body size ( J:158845 )

• 70-80% as large in size compared to heterozygous littermates

decreased body weight ( J:158845 )

• 70-80% as large in weight compared to heterozygous littermates

• 15-20% weight decrease at 6 weeks of age on phytol diet compared to mice not recieving phytol supplementation

slow postnatal weight gain ( J:158845 )

• poor weight gain after weaning when on a phytol supplemented diet

enlarged liver ( J:158845 )

vision/eye

abnormal lens morphology ( J:158845 )

• abnormal layering of lens fibers throughout the lens

abnormal lens capsule morphology ( J:158845 )

• thickened

abnormal lens fiber morphology ( J:158845 )

• posterior proliferation of epithelial cells and dramatic ballooning of lens fiber cells, results in retained nuclei and abnormal layering of lens fibers throughout the lens

cataract ( J:158845 )

• visible cataracts by 2-6 wks of age

reproductive system

reduced fertility ( J:158845 )

• fewer litters on phytol supplemented diet

decreased litter size ( J:158845 )

• on phytol supplemented diet

homeostasis/metabolism

decreased fatty acids level ( J:158845 )

• tissue plasmalogen levels (as a percentage of total fatty acids), varied from around 50% in RBCs, to around 30% of their littermate controls in brain, heart and lens epithelial cells

• docohexanoic acid (DHA) levels in RBCs from are around 66% of heterozygous controls

decreased saturated fatty acids level ( J:158845 )

• on phytol supplemented diet

increased fatty acids level ( J:158845 )

• phytol supplemented diet results in high plasma and tissue phytanic acid levels

lipidosis ( J:158845 )

• vacuolation, consistent with lipid deposits, is observed in multiple tissues including liver, heart and adrenal glands

abnormal enzyme/coenzyme activity ( J:158845 )

• plasmalogen biosynthesis (a measure of glyceronephosphate O-acyltransferase and alkyl-dihydroxyacetonephosphate synthase enzyme activities) and phytanic acid oxidation are reduced in embryonic fibroblasts

cellular

abnormal cell physiology ( J:158845 )

• impairment in peroxisomal import of PTS2 targeted proteins

skeleton

delayed bone ossification ( J:158845 )

• delay in ossification centers in the talus (ankle) and last middle phalange

liver/biliary system

enlarged liver ( J:158845 )

liver inflammation ( J:158845 )

• portal and periportal aggregates of vacuolated macrophages and inflammatory infiltrates

hepatic steatosis ( J:158845 )

• vacuolation, consistent with lipid deposits, is observed

liver degeneration ( J:158845 )

• the liver is nodular with hepatocyte vacuolation and degenerative changes

cardiovascular system

abnormal heart morphology ( J:158845 )

• vacuolation, consistent with lipid deposits, is observed

endocrine/exocrine glands

abnormal adrenal gland morphology ( J:158845 )

• vacuolation, consistent with lipid deposits, is observed

immune system

liver inflammation ( J:158845 )

• portal and periportal aggregates of vacuolated macrophages and inflammatory infiltrates

nervous system

abnormal hippocampus morphology ( J:158845 )

• more frequent intraneural PAS/LFB positive deposits in the hippocampus

abnormal spinal cord morphology ( J:158845 )

• focal demyelination of a spinal rootlet in the cauda equina

demyelination ( J:158845 )

• focal demyelination of a spinal rootlet in the cauda equina

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rhizomelic chondrodysplasia punctata type 1		DOID:0110851	OMIM:215100	J:158845