Phenotypes Associated with This Genotype

Genotype
MGI:3579768

• Allelic Composition: Col4a1^deltaex40/Col4a1⁺
• Genetic Background: B6.129S-Col4a1^deltaex40

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:215446 )

• higher death rate in adults with aging

perinatal lethality, incomplete penetrance ( J:98572 )

• 50% die within 1 day of birth

nervous system

seizures ( J:215446 )

intracerebral hemorrhage ( J:98572 , J:215446 )

• cerebral hemorrhage (J:98572)

• in all adults (J:215446)

subarachnoid hemorrhage ( J:215446 )

• subarachnoid hemorrhage in mice with seizures

brain lesion ( J:98572 )

• porencephalic lesions in 18% of adults

cardiovascular system

abnormal blood vessel morphology ( J:215446 )

• weakened vasculature in adults

abnormal retina blood vessel pattern ( J:215446 )

• retinal vascular tortuosity

intracerebral hemorrhage ( J:98572 , J:215446 )

• cerebral hemorrhage (J:98572)

• in all adults (J:215446)

subarachnoid hemorrhage ( J:215446 )

• subarachnoid hemorrhage in mice with seizures

growth/size/body

decreased body size ( J:98572 )

renal/urinary system

increased urine microalbumin level ( J:215446 )

abnormal kidney morphology ( J:98572 )

reproductive system

reduced fertility ( J:98572 )

vision/eye

abnormal eye morphology ( J:98572 )

abnormal retina blood vessel pattern ( J:215446 )

• retinal vascular tortuosity

respiratory system

respiratory distress ( J:215446 )

• repiratory distress and cyanotic at birth

behavior/neurological

weakness ( J:215446 )

• hemipaeresis

seizures ( J:215446 )

homeostasis/metabolism

cyanosis ( J:215446 )

• cyanotic at birth

increased urine microalbumin level ( J:215446 )

cellular

abnormal basement membrane morphology ( J:215446 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
brain small vessel disease 1		DOID:0090125	OMIM:175780	J:215446
porencephaly		DOID:0060263		J:98572