Phenotypes associated with this allele

• Allele Symbol: Col4a1^deltaex40
• Allele Name: delta exon 40
• Allele ID: MGI:3579521
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Col4a1^deltaex40/Col4a1^deltaex40	B6.129S-Col4a1^deltaex40	MGI:3579767
ht2	Col4a1^deltaex40/Col4a1^+	B6.129S-Col4a1^deltaex40	MGI:3579768
ht3	Col4a1^deltaex40/Col4a1^+	involves: 129S/SvEv * C57BL/6J	MGI:5308056
ht4	Col4a1^deltaex40/Col4a1^+	involves: 129S/SvEv * C57BL/6J * CAST/EiJ	MGI:5308057

Genotype
MGI:3579767

hm1

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

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

mortality/aging

embryonic lethality, complete penetrance ( J:98572 )

• homozygous embryos not viable after mid-embryogenesis

embryo

abnormal parietal endoderm morphology ( J:98572 )

• procollagen accumulation in parietal endoderm cells

abnormal Reichert's membrane morphology ( J:98572 )

• embryonic Reichert's membrane lacked Col4a1 in basement membrane

Genotype
MGI:3579768

ht2

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

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

Genotype
MGI:5308056

ht3

• Allelic Composition: Col4a1^deltaex40/Col4a1⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6J

Mislocalization of retinal ganglion cells in Col4a1^deltaex40/Col4a1⁺ eyes

behavior/neurological

decreased grip strength ( J:172720 )

• at 3 months of age, mutants perform worse than controls in a test of peak grip force

homeostasis/metabolism

increased circulating creatine kinase level ( J:172720 )

• mutants exhibit an elevation in creatine kinase activity following exercise compared to controls

muscle

myopathy ( J:172720 )

• mutants exhibit occasional split muscle fibers and an increase in the number of non-peripheral nuclei, indicating myopathy

• severity of myopathy is not markedly affected by age

• Background Sensitivity: level of myopathy is higher on a 129/SvEv and C57BL/6J background than on a CAST/EiJ, 129/SvEv, and C57BL/6J background

nervous system

enlarged brain ventricles ( J:172720 )

• occasionally mutants display enlarged ventricles

abnormal hippocampus morphology ( J:172720 )

• mutants have subtle but consistent neuronal localization defects within the hippocampus

• the CA1, CA3, and dentate gyrus layers of mutants are less tightly organized and more dispersed than wild-type mice

abnormal cerebral cortex morphology ( J:172720 )

• cerebral cortical malformations

• cerebral neuronal localization defects characteristic of cobblestone lissencephaly

delaminated cerebral cortex ( J:172720 )

• all mutants have focal and variable cerebral cortex lamination defects ranging from mild distortions and ectopias to severe heterotoipic regions devoid of obvious lamination

• cortical lamination is disorganized already at E14 and E16

astrocytosis ( J:172720 )

• astrocytic gliosis is seen in the hippocampus and cerebral cortex

abnormal brain pia mater morphology ( J:172720 )

• discontinuous pial basement membranes at P0

abnormal retina ganglion cell morphology ( J:172720 )

• mislocalization and subsequent apoptosis of retinal ganglion cells

optic nerve hypoplasia ( J:172720 )

• optic nerve hypoplasia

vision/eye

optic nerve hypoplasia ( J:172720 )

• optic nerve hypoplasia

microphthalmia ( J:172720 )

abnormal retina morphology ( J:172720 )

• small retinas

abnormal retina vasculature morphology ( J:172720 )

• the hyaloid vasculature in mutant eyes is most often found in the vitreous rather than being closely associated with the inner limiting membrane as in wild-type mice

abnormal retina inner limiting membrane morphology ( J:172720 )

• focal disruptions of the inner limiting membrane

abnormal retina neuronal layer morphology ( J:172720 )

• reduced production of retinal neurons

abnormal retina ganglion cell morphology ( J:172720 )

• mislocalization and subsequent apoptosis of retinal ganglion cells

cardiovascular system

abnormal retina vasculature morphology ( J:172720 )

• the hyaloid vasculature in mutant eyes is most often found in the vitreous rather than being closely associated with the inner limiting membrane as in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Walker-Warburg syndrome		DOID:0050560		J:172720

Genotype
MGI:5308057

ht4

• Allelic Composition: Col4a1^deltaex40/Col4a1⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6J * CAST/EiJ

muscle

myopathy ( J:172720 )

• Background Sensitivity: level of myopathy is lower on a CAST/EiJ, 129/SvEv, and C57BL/6J background than on a 129/SvEv and C57BL/6J background, with mutants showing fewer muscle fibers with non-peripheral nuclei