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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 (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous embryos not viable after mid-embryogenesis (J:98572)
• homozygous embryos not viable after mid-embryogenesis (J:98572)

embryogenesis
• procollagen accumulation in parietal endoderm cells (J:98572)
• procollagen accumulation in parietal endoderm cells (J:98572)
• embryonic Reichert's membrane lacked Col4a1 in basement membrane (J:98572)
• embryonic Reichert's membrane lacked Col4a1 in basement membrane (J:98572)




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 (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% die within 1 day of birth (J:98572)
• 50% die within 1 day of birth (J:98572)
• higher death rate in adults with aging (J:215446)
• higher death rate in adults with aging (J:215446)

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

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

growth/size/body

renal/urinary system

reproductive system

vision/eye
• retinal vascular tortuosity (J:215446)
• retinal vascular tortuosity (J:215446)

respiratory system
• repiratory distress and cyanotic at birth (J:215446)
• repiratory distress and cyanotic at birth (J:215446)

behavior/neurological
• hemipaeresis (J:215446)
• hemipaeresis (J:215446)

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 (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)




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 (17 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 (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 (J:172720)





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory