About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5308056
Allelic
Composition
Col4a1deltaex40/Col4a1+
Genetic
Background
involves: 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1deltaex40 mutation (0 available); any Col4a1 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• at 3 months of age, mutants perform worse than controls in a test of peak grip force (J:172720)
• at 3 months of age, mutants perform worse than controls in a test of peak grip force (J:172720)

homeostasis/metabolism
• mutants exhibit an elevation in creatine kinase activity following exercise compared to controls (J:172720)
• mutants exhibit an elevation in creatine kinase activity following exercise compared to controls (J:172720)

muscle
• mutants exhibit occasional split muscle fibers and an increase in the number of non-peripheral nuclei, indicating myopathy (J:172720)
• severity of myopathy is not markedly affected by age (J:172720)
• 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 (J:172720)
• mutants exhibit occasional split muscle fibers and an increase in the number of non-peripheral nuclei, indicating myopathy (J:172720)
• severity of myopathy is not markedly affected by age (J:172720)
• 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 (J:172720)

nervous system
• occasionally mutants display enlarged ventricles (J:172720)
• occasionally mutants display enlarged ventricles (J:172720)
• mutants have subtle but consistent neuronal localization defects within the hippocampus (J:172720)
• the CA1, CA3, and dentate gyrus layers of mutants are less tightly organized and more dispersed than wild-type mice (J:172720)
• mutants have subtle but consistent neuronal localization defects within the hippocampus (J:172720)
• the CA1, CA3, and dentate gyrus layers of mutants are less tightly organized and more dispersed than wild-type mice (J:172720)
• cerebral cortical malformations (J:172720)
• cerebral neuronal localization defects characteristic of cobblestone lissencephaly (J:172720)
• cerebral cortical malformations (J:172720)
• cerebral neuronal localization defects characteristic of cobblestone lissencephaly (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 (J:172720)
• cortical lamination is disorganized already at E14 and E16 (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 (J:172720)
• cortical lamination is disorganized already at E14 and E16 (J:172720)
• astrocytic gliosis is seen in the hippocampus and cerebral cortex (J:172720)
• astrocytic gliosis is seen in the hippocampus and cerebral cortex (J:172720)
• discontinuous pial basement membranes at P0 (J:172720)
• discontinuous pial basement membranes at P0 (J:172720)
• mislocalization and subsequent apoptosis of retinal ganglion cells (J:172720)
• mislocalization and subsequent apoptosis of retinal ganglion cells (J:172720)
• optic nerve hypoplasia (J:172720)
• optic nerve hypoplasia (J:172720)

vision/eye
• optic nerve hypoplasia (J:172720)
• optic nerve hypoplasia (J:172720)
• small retinas (J:172720)
• small retinas (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 (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 (J:172720)
• focal disruptions of the inner limiting membrane (J:172720)
• focal disruptions of the inner limiting membrane (J:172720)
• reduced production of retinal neurons (J:172720)
• reduced production of retinal neurons (J:172720)
• mislocalization and subsequent apoptosis of retinal ganglion cells (J:172720)
• mislocalization and subsequent apoptosis of retinal ganglion cells (J:172720)

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 (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 (J:172720)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory