Analysis Tools|
Allele Symbol Allele Name Allele ID |
Col4a1deltaex40 delta exon 40 MGI:3579521 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• homozygous embryos not viable after mid-embryogenesis
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• procollagen accumulation in parietal endoderm cells
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• embryonic Reichert's membrane lacked Col4a1 in basement membrane
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• higher death rate in adults with aging
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• 50% die within 1 day of birth
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• cerebral hemorrhage
(J:98572)
• in all adults
(J:215446)
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• subarachnoid hemorrhage in mice with seizures
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• porencephalic lesions in 18% of adults
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• weakened vasculature in adults
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• retinal vascular tortuosity
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• cerebral hemorrhage
(J:98572)
• in all adults
(J:215446)
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• subarachnoid hemorrhage in mice with seizures
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• retinal vascular tortuosity
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• repiratory distress and cyanotic at birth
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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 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mislocalization of retinal ganglion cells in Col4a1deltaex40/Col4a1+ eyes
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• at 3 months of age, mutants perform worse than controls in a test of peak grip force
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• mutants exhibit an elevation in creatine kinase activity following exercise compared to controls
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• 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
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• astrocytic gliosis is seen in the hippocampus and cerebral cortex
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• occasionally mutants display enlarged ventricles
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• 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
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• cerebral cortical malformations
• cerebral neuronal localization defects characteristic of cobblestone lissencephaly
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• 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
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• discontinuous pial basement membranes at P0
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• mislocalization and subsequent apoptosis of retinal ganglion cells
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• optic nerve hypoplasia
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• optic nerve hypoplasia
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• small retinas
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• 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
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• focal disruptions of the inner limiting membrane
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• reduced production of retinal neurons
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• mislocalization and subsequent apoptosis of retinal ganglion cells
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• 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
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• astrocytic gliosis is seen in the hippocampus and cerebral cortex
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Walker-Warburg syndrome | DOID:0050560 | J:172720 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 09/30/2025 MGI 6.24 |
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