Phenotypes Associated with This Genotype

Genotype
MGI:3052846

• Allelic Composition: Pex7^tm1Rjaw/Pex7^tm1Rjaw
• Genetic Background: Swiss

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:92346 )

• 50% die within 12 hours, 20% before weaning, some mice survive to 18 months

behavior/neurological

abnormal eating behavior ( J:92346 )

• difficulty feeding

dystonia ( J:92346 )

• hypotonia with decreased motility

growth/size/body

decreased body weight ( J:92346 )

• body weight is 15-30% lower that wild-type

disproportionate dwarf ( J:92346 )

• variable degree of dwarfism

homeostasis/metabolism

abnormal lipid level ( J:92346 )

• reduced rate of plasmalogen formation in erthrocytes, fibroblasts and brain

increased fatty acids level ( J:92346 )

• accumulation of very long chain fatty acids in newborn plasma, liver and brain, levels become normal by two months of age

reproductive system

testicular atrophy ( J:92346 )

♂

infertility ( J:92346 )

skeleton

abnormal osteoclast morphology ( J:92346 )

• osteoclasts contain higher numbers of vacuoles

abnormal cartilage development ( J:92346 )

• delay in cartilage ossification in the basisphenoid bone, inner ear ossicles coccygeal vertebrae, calcaneus, talus, and middle phalanges

decreased bone mineralization ( J:92346 )

• lower level of mineralization in femur

vision/eye

cataract ( J:92346 )

nervous system

abnormal neuronal migration ( J:92346 )

abnormal cerebral cortex morphology ( J:92346 )

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

muscle

dystonia ( J:92346 )

• hypotonia with decreased motility

hematopoietic system

abnormal osteoclast morphology ( J:92346 )

• osteoclasts contain higher numbers of vacuoles

immune system

abnormal osteoclast morphology ( J:92346 )

• osteoclasts contain higher numbers of vacuoles

endocrine/exocrine glands

testicular atrophy ( J:92346 )

♂

cellular

abnormal neuronal migration ( J:92346 )

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