Mouse Genome Informatics
involves: 129X1/SvJ * C57BL/6
phenotype observed in females
phenotype observed in males
N normal phenotype
• 60% die just after birth due to respiratory failure

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

respiratory system

• mice that survive past E10.5 exhibit progressive skeletal abnormalities beginning at E14.5
• brachycephaly in the skull vault
• dilation of sutures
• shorter and thicker
• vertebral bodies are decreased in height and increased in width
• vertebral bodies contain multiple ossification centers at the periphery
• cartilage shows fibrous invasion from perichondrium which generates ectopic ossification centers and disrupts the growth plate
• highly disorganized zones in the growth plate with no columnar structures of hypertrophic chondrocytes
• no distinct prehypertrophic zone at E18.5
• cartilage matrix formation is abnormal with decreased levels of glycosaminoglycans and aggrecan, and a sparse and disorganized collagen fibril network
• fewer hypertrophic chondrocytes at E14.5
• proliferation of prehypertrophic chondrocytes is reduced
• reduced endochondral ossification in E18.5 growth plate
• delayed ossification of bony ossicles of middle ear

• forelimbs are bowed, shorter and about 150% broader
• hindlimbs are bowed, shorter and about 150% broader
• about 60% shorter

nervous system
• 6% develop exencephaly
• absence of acetylcholinesterase at the neuromuscular junction
• surface area occupied by the neuromuscular junctions is about 30% larger than in wildtype

• cephalic abnormalities in mice that die by E10.5
• brachycephaly in the skull vault
• dilation of sutures
• shorter and thicker

Mouse Models of Human Disease
Dyssegmental Dysplasia, Silverman-Handmaker Type; DDSH 224410 J:74542
NOT Schwartz-Jampel Syndrome, Type 1; SJS1 255800 J:74542
Thanatophoric Dysplasia, Type I; TD1 187600 J:67299