Mouse Genome Informatics
ht
    Col4a1deltaex40/Col4a1+
B6.129S-Col4a1deltaex40
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 50% die within 1 day of birth
• higher death rate in adults with aging

nervous system
• cerebral hemorrhage (J:98572)
• subarachnoid hemorrhage in mice with seizures (J:215446)
• in all adults
• porencephalic lesions in 18% of adults

cardiovascular system
• weakened vasculature in adults
• retinal vascular tortuosity
• cerebral hemorrhage (J:98572)
• subarachnoid hemorrhage in mice with seizures (J:215446)
• in all adults

growth/size/body

renal/urinary system

reproductive system

vision/eye
• retinal vascular tortuosity

respiratory system
• repiratory distress and cyanotic at birth

behavior/neurological
• hemipaeresis

homeostasis/metabolism

cellular

Mouse Models of Human Disease
OMIM IDRef(s)
Brain Small Vessel Disease with or without Ocular Anomalies 607595 J:215446
Porencephaly 1; POREN1 175780 J:98572