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Phenotypes Associated with This Genotype
Genotype
MGI:5502438
Allelic
Composition
Jam3tm1Rha/Jam3tm1Rha
Genetic
Background
B6.129P2-Jam3tm1Rha
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Jam3tm1Rha mutation (0 available); any Jam3 mutation (12 available)
phenotype observed in females
phenotype observed in males
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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory