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Phenotypes Associated with This Genotype
Genotype
MGI:4443126
Allelic
Composition
Pex7tm1Nbra/Pex7tm1Nbra
Genetic
Background
involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex7tm1Nbra mutation (0 available); any Pex7 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• on a phytol supplemented diet several mice die

growth/size/body
• decrease in size compared to heterozygous littermates is detectable at birth
• decrease in weight compared to heterozygous littermates is detectable at birth
• mice that die on a phytol supplemented diet lose weight for several days prior to death
• 70-80% as large in size compared to heterozygous littermates
• 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
• poor weight gain after weaning when on a phytol supplemented diet

vision/eye
• abnormal layering of lens fibers throughout the lens
• 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
• visible cataracts by 2-6 wks of age

reproductive system
• on phytol supplemented diet
• fewer litters on phytol supplemented diet

homeostasis/metabolism
• 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
• on phytol supplemented diet
• phytol supplemented diet results in high plasma and tissue phytanic acid levels
• vacuolation, consistent with lipid deposits, is observed in multiple tissues including liver, heart and adrenal glands
• plasmalogen biosynthesis (a measure of glyceronephosphate O-acyltransferase and alkyl-dihydroxyacetonephosphate synthase enzyme activities) and phytanic acid oxidation are reduced in embryonic fibroblasts

cellular
• impairment in peroxisomal import of PTS2 targeted proteins

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

liver/biliary system
• portal and periportal aggregates of vacuolated macrophages and inflammatory infiltrates
• vacuolation, consistent with lipid deposits, is observed
• the liver is nodular with hepatocyte vacuolation and degenerative changes

cardiovascular system
• vacuolation, consistent with lipid deposits, is observed

endocrine/exocrine glands
• vacuolation, consistent with lipid deposits, is observed

immune system
• portal and periportal aggregates of vacuolated macrophages and inflammatory infiltrates

nervous system
• more frequent intraneural PAS/LFB positive deposits in the hippocampus
• focal demyelination of a spinal rootlet in the cauda equina
• 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


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
08/13/2019
MGI 6.14
The Jackson Laboratory