Mouse Genome Informatics
hm
    Jam3tm1Rha/Jam3tm1Rha
B6.129P2-Jam3tm1Rha
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Small body size, severe hydrocephalus, and brain alterations in Jam3tm1Rha/Jam3tm1Rha mice

mortality/aging
• only 50% of mutants survive to weaning at P21
• mice with severe hydrocephalus die within several days of birth

growth/size/body

craniofacial
• deformed skull
• increase in hydrostatic pressure in the skull
• extremely enlarged skull

cardiovascular system
• mice with hydrocephalus exhibit multiple perivascular bleedings in the brain parenchyma
• mice with hydrocephalus exhibit subarachnoid hemorrhages
• mice with hydrocephalus exhibit intraventricular hemorrhages

behavior/neurological
• mice with severe hydrocephalus exhibit tremor
• mice with severe hydrocephalus exhibit lethargy
• mice with severe hydrocephalus exhibit spastic gait

integument
• mice with severe hydrocephalus exhibit an untended coat

nervous system
• 65% of mutants develop severe hydrocephalus
• 2/3 of mutants that survive past weaning develop hydrocephalus within the first 4-8 weeks after birth
• hydrocephalus gets more severe over time
• mutants developing hydrocephalus show impaired cerebral spinal fluid (CSF) drainage from the lateral to the 3rd ventricle, indicating obstruction
• hippocampus is dislocated due to an increase in hydrostatic pressure
• severe disorganization of cortical layers in the brain
• lack of differentiated pyramidal cells
• atrophic cerebellum
• reactive gliosis is seen in the anterior and posterior areas of the cortex and in the hippocampus, however they are not seen in the atrophic cerebellum
• axonal and dendritic processes or MBP+ fibers that run perpendicular to the surface of the brain are absent
• mutants developing hydrocephalus show impaired cerebral spinal fluid (CSF) drainage from the lateral to the 3rd ventricle
• mice with hydrocephalus exhibit subarachnoid hemorrhages
• mice with hydrocephalus exhibit intraventricular hemorrhages

skeleton
• deformed skull
• increase in hydrostatic pressure in the skull
• extremely enlarged skull

Mouse Models of Human Disease
OMIM IDRef(s)
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts; HDBSCC 613730 J:191990