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Phenotypes Associated with This Genotype
Genotype
MGI:3052846
Allelic
Composition
Pex7tm1Rjaw/Pex7tm1Rjaw
Genetic
Background
Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pex7tm1Rjaw mutation (0 available); any Pex7 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% die within 12 hours, 20% before weaning, some mice survive to 18 months

behavior/neurological
• difficulty feeding
• hypotonia with decreased motility

growth/size/body
• body weight is 15-30% lower that wild-type
• variable degree of dwarfism

homeostasis/metabolism
• reduced rate of plasmalogen formation in erthrocytes, fibroblasts and brain
• accumulation of very long chain fatty acids in newborn plasma, liver and brain, levels become normal by two months of age

reproductive system

skeleton
• osteoclasts contain higher numbers of vacuoles
• delay in cartilage ossification in the basisphenoid bone, inner ear ossicles coccygeal vertebrae, calcaneus, talus, and middle phalanges
• lower level of mineralization in femur

vision/eye

nervous system
• cerebral cortex intermediate zone is densely populated with neurons by E18.5

muscle
• hypotonia with decreased motility

hematopoietic system
• osteoclasts contain higher numbers of vacuoles

immune system
• osteoclasts contain higher numbers of vacuoles

endocrine/exocrine glands

cellular

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
rhizomelic chondrodysplasia punctata type 1 DOID:0110851 OMIM:215100
J:92346


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
07/09/2019
MGI 6.14
The Jackson Laboratory