All Phenotypes Hspg2<tm1Nid> MGI Mouse

cellular

decreased chondrocyte proliferation ( J:67299 )

• proliferation of prehypertrophic chondrocytes is reduced

mortality/aging

perinatal lethality, incomplete penetrance ( J:67299 )

• 60% die just after birth due to respiratory failure

embryonic lethality during organogenesis, incomplete penetrance ( J:67299 )

• 40% die by E10.5

growth/size/body

short snout ( J:67299 )

disproportionate dwarf ( J:67299 )

• mice that survive to birth exhibit disproportionate dwarfism and are about 80% smaller

respiratory system

respiratory failure ( J:67299 )

skeleton

decreased chondrocyte proliferation ( J:67299 )

• proliferation of prehypertrophic chondrocytes is reduced

abnormal skeleton morphology ( J:67299 )

• mice that survive past E10.5 exhibit progressive skeletal abnormalities beginning at E14.5

abnormal cranium morphology ( J:67299 )

• brachycephaly in the skull vault

wide cranial sutures ( J:67299 )

• dilation of sutures

short mandible ( J:67299 )

• shorter and thicker

domed cranium ( J:67299 )

abnormal vertebral body morphology ( J:67299 )

• vertebral bodies are decreased in height and increased in width

• vertebral bodies contain multiple ossification centers at the periphery

abnormal cartilage morphology ( J:67299 )

• cartilage shows fibrous invasion from perichondrium which generates ectopic ossification centers and disrupts the growth plate

disorganized long bone epiphyseal plate ( J:67299 )

• highly disorganized zones in the growth plate with no columnar structures of hypertrophic chondrocytes

• no distinct prehypertrophic zone at E18.5

abnormal cartilage development ( J:67299 )

• cartilage matrix formation is abnormal with decreased levels of glycosaminoglycans and aggrecan, and a sparse and disorganized collagen fibril network

abnormal long bone hypertrophic chondrocyte zone ( J:67299 )

• fewer hypertrophic chondrocytes at E14.5

abnormal bone ossification ( J:67299 )

• reduced endochondral ossification in E18.5 growth plate

delayed bone ossification ( J:67299 )

• delayed ossification of bony ossicles of middle ear

limbs/digits/tail

abnormal forelimb morphology ( J:67299 )

• forelimbs are bowed, shorter and about 150% broader

abnormal hindlimb morphology ( J:67299 )

• hindlimbs are bowed, shorter and about 150% broader

short limbs ( J:67299 )

• about 60% shorter

nervous system

exencephaly ( J:67299 )

• 6% develop exencephaly

abnormal neuromuscular synapse morphology ( J:74542 )

• absence of acetylcholinesterase at the neuromuscular junction

• surface area occupied by the neuromuscular junctions is about 30% larger than in wildtype

craniofacial

abnormal craniofacial morphology ( J:67299 )

• cephalic abnormalities in mice that die by E10.5