About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col4a1deltaex40
delta exon 40
MGI:3579521
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Col4a1deltaex40/Col4a1deltaex40 B6.129S-Col4a1deltaex40 MGI:3579767
ht2
Col4a1deltaex40/Col4a1+ B6.129S-Col4a1deltaex40 MGI:3579768
ht3
Col4a1deltaex40/Col4a1+ involves: 129S/SvEv * C57BL/6J MGI:5308056
ht4
Col4a1deltaex40/Col4a1+ involves: 129S/SvEv * C57BL/6J * CAST/EiJ MGI:5308057


Genotype
MGI:3579767
hm1
Allelic
Composition
Col4a1deltaex40/Col4a1deltaex40
Genetic
Background
B6.129S-Col4a1deltaex40
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1deltaex40 mutation (0 available); any Col4a1 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous embryos not viable after mid-embryogenesis

embryo
• procollagen accumulation in parietal endoderm cells
• embryonic Reichert's membrane lacked Col4a1 in basement membrane




Genotype
MGI:3579768
ht2
Allelic
Composition
Col4a1deltaex40/Col4a1+
Genetic
Background
B6.129S-Col4a1deltaex40
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1deltaex40 mutation (0 available); any Col4a1 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% die within 1 day of birth
• higher death rate in adults with aging

nervous system
• cerebral hemorrhage (J:98572)
• subarachnoid hemorrhage in mice with seizures (J:215446)
• in all adults
• porencephalic lesions in 18% of adults

cardiovascular system
• weakened vasculature in adults
• retinal vascular tortuosity
• cerebral hemorrhage (J:98572)
• subarachnoid hemorrhage in mice with seizures (J:215446)
• in all adults

growth/size/body

renal/urinary system

reproductive system

vision/eye
• retinal vascular tortuosity

respiratory system
• repiratory distress and cyanotic at birth

behavior/neurological
• hemipaeresis

homeostasis/metabolism

cellular




Genotype
MGI:5308056
ht3
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 (51 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

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




Genotype
MGI:5308057
ht4
Allelic
Composition
Col4a1deltaex40/Col4a1+
Genetic
Background
involves: 129S/SvEv * C57BL/6J * CAST/EiJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1deltaex40 mutation (0 available); any Col4a1 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• 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





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
08/23/2016
MGI 6.05
The Jackson Laboratory