Mouse Genome Informatics
ht
    Col4a1deltaex40/Col4a1+
involves: 129S/SvEv * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
behavior/neurological
• at 3 months of age, mutants perform worse than controls in a test of peak grip force

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

muscle
• 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
• occasionally mutants display enlarged ventricles
• 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
• cerebral cortical malformations
• cerebral neuronal localization defects characteristic of cobblestone lissencephaly
• 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
• astrocytic gliosis is seen in the hippocampus and cerebral cortex
• discontinuous pial basement membranes at P0
• mislocalization and subsequent apoptosis of retinal ganglion cells
• optic nerve hypoplasia

vision/eye
• optic nerve hypoplasia
• small retinas
• 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
• focal disruptions of the inner limiting membrane
• reduced production of retinal neurons
• mislocalization and subsequent apoptosis of retinal ganglion cells

cardiovascular system
• 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
OMIM IDRef(s)
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1 236670 J:172720