Mouse Genome Informatics
involves: 129S1/Sv * C57BL/6
phenotype observed in females
phenotype observed in males
N normal phenotype
• all but two die between P21 and P28

• 25-30% smaller than wild-type
• by P5, mutants are unable to gain weight as efficiently as wild-type and between P16 and P19, weight plateaus and then progressively decreases such that before death, weight is 60-70% of wild-type

• thinning of the cranial bones
• less pronounced cranial sutures

nervous system
• by 3 weeks of age, develop hydrocephalus that progresses as mice age and is characterized by dilatation of the lateral brain ventricles and the third ventricle
• partial agenesis of the corpus callosum; the callosal body is thin in rostral brain regions and is completely absent in more caudal regions

• when lifted by tails, draw limbs in toward their bodies

digestive/alimentary system
• thinning of the intestinal wall
• the small intestine shows reduced blood supply and contains a yellowish/brownish fluid

• thinning of the cranial bones
• less pronounced cranial sutures
• zone of columnar proliferating chondrocytes is severely reduced
• zone of hypertrophic chondrocytes is slightly reduced
• femurs exhibit an enlargement of the ephiphyseal growth plate due to an increase in the number of chondrocytes in the resting zone
• irregular in shape, the nucleus pulposus is smaller and sometimes fragmented, and in some disks, the lamellar organization of the collagen fibers in the annulus fibrosus is disturbed
• progressive degeneration of intervertebral disks such that the one surviving 7-month old mutant showed degenerative changes in the nucleus pulposus
• thoraco-thoracical hyperkyphosis
• severe cervico-cervical hyperlordosis
• delay in ossification of vertebral bodies
• thin cortical bone
• trabecular bone is reduced in mass
• trabecular bone is thinner
• mineralization is decreased in the hind limbs and jawbones
• delay in ossification of vertebral bodies

• mutants are unable to fully open their eyes

Mouse Models of Human Disease
Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 166990 J:122250
Scheuermann Disease 181440 J:122250