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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Col4a1+
wild type
MGI:2430163
Summary 16 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Col4a1deltaex40/Col4a1+ B6.129S-Col4a1deltaex40 MGI:3579768
ht2
 		Col4a1Acso/Col4a1+ C3.Cg-Col4a1Acso MGI:4822226
ht3
 		Col4a1ENU911/Col4a1+ C3.Cg-Col4a1ENU911 MGI:4822242
ht4
 		Col4a1F247/Col4a1+ C3.Cg-Col4a1F247 MGI:4822251
ht5
 		Col4a1D456/Col4a1+ C3.D2-Col4a1D456 MGI:4822250
ht6
 		Col4a1ENU4004/Col4a1+ C3.D2-Col4a1ENU4004 MGI:4822243
ht7
 		Col4a1ENU6005/Col4a1+ C3H/HeJ-Col4a1ENU6005 MGI:4822245
ht8
 		Col4a1ENU6009/Col4a1+ C3H/HeJ-Col4a1ENU6009 MGI:4822246
ht9
 		Col4a1ENU6019/Col4a1+ C3H/HeJ-Col4a1ENU6019 MGI:4822248
ht10
 		Col4a1ENU6024/Col4a1+ C3H/HeJ-Col4a1ENU6024 MGI:4822249
ht11
 		Col4a1tm1.1Ics/Col4a1+ involves: 129S2/SvPas * C57BL/6 MGI:5905035
ht12
 		Col4a1deltaex40/Col4a1+ involves: 129S/SvEv * C57BL/6J MGI:5308056
ht13
 		Col4a1deltaex40/Col4a1+ involves: 129S/SvEv * C57BL/6J * CAST/EiJ MGI:5308057
ht14
 		Col4a1Svc/Col4a1+ involves: BALB/cAnN * C3H/HeN MGI:3028512
ht15
 		Col4a1Raw/Col4a1+ involves: BALB/cAnN * C3H/HeN MGI:3028414
ht16
 		Col4a1Bru/Col4a1+ Not Specified MGI:2658838


Genotype
MGI:3579768
ht1
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 (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:215446 )
• higher death rate in adults with aging
perinatal lethality, incomplete penetrance ( J:98572 )
• 50% die within 1 day of birth

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

cardiovascular system
abnormal blood vessel morphology ( J:215446 )
• weakened vasculature in adults
abnormal retina blood vessel pattern ( J:215446 )
• retinal vascular tortuosity
intracerebral hemorrhage ( J:98572 , J:215446 )
• cerebral hemorrhage (J:98572)
• in all adults (J:215446)
subarachnoid hemorrhage ( J:215446 )
• subarachnoid hemorrhage in mice with seizures

growth/size/body
decreased body size ( J:98572 )

renal/urinary system

reproductive system

vision/eye
abnormal retina blood vessel pattern ( J:215446 )
• retinal vascular tortuosity

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

behavior/neurological
weakness ( J:215446 )
• hemipaeresis

homeostasis/metabolism
cyanosis ( J:215446 )
• cyanotic at birth

cellular

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




Genotype
MGI:4822226
ht2
Allelic
Composition		 Col4a1Acso/Col4a1+
Genetic
Background		 C3.Cg-Col4a1Acso
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1Acso mutation (1 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal lens capsule morphology ( J:163225 )
• anterior capsule opacity
sutural cataract ( J:163225 )
• sutural opacity

nervous system
nervous system phenotype ( J:163225 )
N
• no histological abnormalities observed in the brain

hematopoietic system




Genotype
MGI:4822242
ht3
Allelic
Composition		 Col4a1ENU911/Col4a1+
Genetic
Background		 C3.Cg-Col4a1ENU911
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1ENU911 mutation (1 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
cornea vascularization ( J:163225 )
• neovascularization
cornea opacity ( J:163225 )
• with hyperplasia

nervous system
nervous system phenotype ( J:163225 )
N
• no histological abnormalities observed

hematopoietic system

cardiovascular system
cornea vascularization ( J:163225 )
• neovascularization




Genotype
MGI:4822251
ht4
Allelic
Composition		 Col4a1F247/Col4a1+
Genetic
Background		 C3.Cg-Col4a1F247
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1F247 mutation (1 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
abnormal lens morphology ( J:163225 )
• disrupted lens
cataract ( J:163225 )
• examples of total lens opacity

hematopoietic system

nervous system




Genotype
MGI:4822250
ht5
Allelic
Composition		 Col4a1D456/Col4a1+
Genetic
Background		 C3.D2-Col4a1D456
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1D456 mutation (1 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
lens vacuoles ( J:163225 )
• lens vacuoles
cataract ( J:163225 )
• total lens opacity
microphthalmia ( J:163225 )
• some examples of microphthalmia

hematopoietic system

nervous system




Genotype
MGI:4822243
ht6
Allelic
Composition		 Col4a1ENU4004/Col4a1+
Genetic
Background		 C3.D2-Col4a1ENU4004
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1ENU4004 mutation (1 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
eye hemorrhage ( J:163225 )
• intraorbital hemorrhage
total cataract ( J:163225 )
• total lens opacity

hematopoietic system

cardiovascular system
eye hemorrhage ( J:163225 )
• intraorbital hemorrhage




Genotype
MGI:4822245
ht7
Allelic
Composition		 Col4a1ENU6005/Col4a1+
Genetic
Background		 C3H/HeJ-Col4a1ENU6005
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1ENU6005 mutation (1 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye
lens vacuoles ( J:163225 )
• lens vacuoles

hematopoietic system

nervous system
abnormal brain morphology ( J:163225 )
• in some embryos, other embryos are normal




Genotype
MGI:4822246
ht8
Allelic
Composition		 Col4a1ENU6009/Col4a1+
Genetic
Background		 C3H/HeJ-Col4a1ENU6009
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1ENU6009 mutation (1 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye

hematopoietic system




Genotype
MGI:4822248
ht9
Allelic
Composition		 Col4a1ENU6019/Col4a1+
Genetic
Background		 C3H/HeJ-Col4a1ENU6019
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1ENU6019 mutation (1 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye

hematopoietic system




Genotype
MGI:4822249
ht10
Allelic
Composition		 Col4a1ENU6024/Col4a1+
Genetic
Background		 C3H/HeJ-Col4a1ENU6024
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1ENU6024 mutation (1 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
vision/eye

hematopoietic system




Genotype
MGI:5905035
ht11
Allelic
Composition		 Col4a1tm1.1Ics/Col4a1+
Genetic
Background		 involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1tm1.1Ics mutation (0 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
renal glomerulus cyst ( J:240798 )
• glomerular cysts first develop at 3 months of age; they are distributed throughout the cortex area and are characterized by enlarged Bowmans space lined by flattened PECs and retracted capillary tufts
• % of glomeruli with cystic changes is significantly increased at 6 months
• at 12 months, glomerular cysts appear slightly but significantly larger in heterozygous kidneys
• however, glomerulotubular junction is preserved in glomeruli with cystic change
abnormal urine albumin level ( J:240798 )
• mild but significant increase in urine albumin/creatinine ratio at 6 and 12 months of age
albuminuria ( J:240798 )
• at P0, mean urinary albumin concentration is 141.1 +/- 129.4 mg/l versus 34.6 +/- 7.8 in wild-type controls
hematuria ( J:240798 )
• heavy hematuria at P0
erythrocyturia ( J:240798 )
• numerous urinary dysmorphic erythrocytes found at P0, suggestive of glomerular origin
abnormal glomerular capsule parietal layer morphology ( J:240798 )
• glomerular parietal epithelial cells (PECs) show an activated phenotype (overexpression of claudin-1 and induction of CD44), induction of DDR1 (discoidin domain receptors 1), and activation of integrin-linked kinase (ILK) pathway at 1 month of age, prior to the development of glomerular cysts and periglomerular inflammation
parietal capsular epithelium metaplasia ( J:240798 )
• at 1 month of age, PECs in a subset (~15%) of glomeruli appear cube-shaped with enlarged nuclei, instead of forming a monolayer of thin epithelial cells with flat nuclei as in normal PECs
• cuboidal PECs lining the Bowman's capsule are found in about one-third of non-cystic glomeruli at 6 and 12 months of age
abnormal podocyte morphology ( J:240798 )
• integrin-linked kinase (ILK) expression is strongly enhanced in podocytes at 1 and 6 months of age
abnormal podocyte foot process morphology ( J:240798 )
• reduced podocyte foot process formation at P0
abnormal podocyte slit diaphragm morphology ( J:240798 )
• expression of nephrin is dramatically reduced in glomeruli at P0; although occasionally detected in slit diaphragms, nephrin is abnormally localized in cytoplasmic vacuoles (vesicles) within the podocytes
• in contrast, podocin is normally expressed in the basal region of the podocytes along the GBM
abnormal renal glomerulus basement membrane morphology ( J:240798 )
• glomerulus basement membrane duplication at P0
abnormal glomerular mesangium morphology ( J:240798 )
• integrin-linked kinase (ILK) expression is strongly enhanced in the mesangium at 1 and 6 months of age
abnormal proximal convoluted tubule morphology ( J:240798 )
• cytoplasmic vacuoles that stain positively with anti-albumin antibody in proximal tubular sections at P0
abnormal kidney physiology ( J:240798 )
• in situ gelatin zymography revealed enhanced matrix metalloproteinase (MMP) enzymatic activity in the periglomerular region and around the renal tubules at 6 months of age
• pretreatment of renal tissue with EDTA, a specific inhibitor of MMP2 and MMP9, blocked gelanolytic activity
kidney inflammation ( J:240798 )
• inflammatory infiltrates are first detected in the kidney at 3 months of age
• at 12 months of age, periglomerular and perivascular inflammatory infiltrates are mostly composed by T-lymphocytes surrounded by macrophages
• however, no significant fibrosis is noted, except in inflammatory areas, and tubules remain normal at 12 months

homeostasis/metabolism
abnormal urine albumin level ( J:240798 )
• mild but significant increase in urine albumin/creatinine ratio at 6 and 12 months of age
albuminuria ( J:240798 )
• at P0, mean urinary albumin concentration is 141.1 +/- 129.4 mg/l versus 34.6 +/- 7.8 in wild-type controls
hematuria ( J:240798 )
• heavy hematuria at P0
erythrocyturia ( J:240798 )
• numerous urinary dysmorphic erythrocytes found at P0, suggestive of glomerular origin

immune system
kidney inflammation ( J:240798 )
• inflammatory infiltrates are first detected in the kidney at 3 months of age
• at 12 months of age, periglomerular and perivascular inflammatory infiltrates are mostly composed by T-lymphocytes surrounded by macrophages
• however, no significant fibrosis is noted, except in inflammatory areas, and tubules remain normal at 12 months

cardiovascular system
abnormal retina blood vessel pattern ( J:240798 )
• adults exhibit retinal tortuosity
intracranial hemorrhage ( J:240798 )
• newborns exhibit brain hemorrhages

muscle
dystrophic muscle ( J:240798 )
• adults exhibit muscular dystrophy

nervous system
intracranial hemorrhage ( J:240798 )
• newborns exhibit brain hemorrhages

vision/eye
abnormal retina blood vessel pattern ( J:240798 )
• adults exhibit retinal tortuosity

growth/size/body
renal glomerulus cyst ( J:240798 )
• glomerular cysts first develop at 3 months of age; they are distributed throughout the cortex area and are characterized by enlarged Bowmans space lined by flattened PECs and retracted capillary tufts
• % of glomeruli with cystic changes is significantly increased at 6 months
• at 12 months, glomerular cysts appear slightly but significantly larger in heterozygous kidneys
• however, glomerulotubular junction is preserved in glomeruli with cystic change

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
kidney disease DOID:557 J:240798




Genotype
MGI:5308056
ht12
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 (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Mislocalization of retinal ganglion cells in Col4a1deltaex40/Col4a1+ eyes

behavior/neurological
decreased grip strength ( J:172720 )
• at 3 months of age, mutants perform worse than controls in a test of peak grip force

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

muscle
myopathy ( J:172720 )
• 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
astrocytosis ( J:172720 )
• astrocytic gliosis is seen in the hippocampus and cerebral cortex
enlarged brain ventricles ( J:172720 )
• occasionally mutants display enlarged ventricles
abnormal hippocampus morphology ( J:172720 )
• 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
abnormal cerebral cortex morphology ( J:172720 )
• cerebral cortical malformations
• cerebral neuronal localization defects characteristic of cobblestone lissencephaly
delaminated cerebral cortex ( 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
• cortical lamination is disorganized already at E14 and E16
abnormal brain pia mater morphology ( J:172720 )
• discontinuous pial basement membranes at P0
abnormal retina ganglion cell morphology ( J:172720 )
• mislocalization and subsequent apoptosis of retinal ganglion cells
optic nerve hypoplasia ( J:172720 )
• optic nerve hypoplasia

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

cardiovascular system
abnormal retina vasculature morphology ( 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

cellular
astrocytosis ( J:172720 )
• astrocytic gliosis is seen in the hippocampus and cerebral cortex

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Walker-Warburg syndrome DOID:0050560 J:172720




Genotype
MGI:5308057
ht13
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 (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
muscle
myopathy ( 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




Genotype
MGI:3028512
ht14
Allelic
Composition		 Col4a1Svc/Col4a1+
Genetic
Background		 involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1Svc mutation (2 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body size ( J:75964 )
• mice were small at birth

vision/eye
anterior iris synechia ( J:75964 )
• peripheral iris-corneal adhesion
cornea opacity ( J:75964 )
• corneal opacity and ectasia
anterior subcapsular cataract ( J:75964 )
• the most consistent eye defect observed in these mice, gave a vacuolar appearance to the lens although some mutants showed anterior subcapsular cataracts
buphthalmos ( J:75964 )
• possibly due to glaucoma
abnormal retina morphology ( J:75964 )
• shiny appearance to retinal arterioles
vitreal fibroplasia ( J:75964 )
• in a few mice, a fibrovascular tuft is present in the vitreous

cardiovascular system
bruising ( J:75964 )
• mice had a bruised appearance at birth




Genotype
MGI:3028414
ht15
Allelic
Composition		 Col4a1Raw/Col4a1+
Genetic
Background		 involves: BALB/cAnN * C3H/HeN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1Raw mutation (2 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
bruising ( J:75964 )
• mice appear bruised at birth

vision/eye
abnormal retina morphology ( J:75964 )
• mice were described as having a shiny reflex from the retinal arterioles; age of onset is 2-3 months and was not progressive




Genotype
MGI:2658838
ht16
Allelic
Composition		 Col4a1Bru/Col4a1+
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col4a1Bru mutation (2 available); any Col4a1 mutation (76 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, incomplete penetrance ( J:13980 )
• heterozygotes display reduced viability from birth to weaning

cardiovascular system
bruising ( J:13980 )
• at birth, heterozygotes exhibit visible bruising, sometimes around the head and sometimes around the hindquarters

growth/size/body
decreased body size ( J:13980 )
• surviving heterozygotes remain smaller than normal

vision/eye
anterior iris synechia ( J:13980 )
• upon slit-lamp examination, strands of tissue are shown to connect the iris, lens, and cornea
cataract ( J:13980 )
• heterozygotes display cataracts upon slit-lamp examination
buphthalmos ( J:13980 )
• surviving heterozygotes develop enlarged eyes (buphthalmos) by 1 month of age

hematopoietic system
anemia ( J:13980 )
• some heterozygotes appear pale and anemic

reproductive system
infertility ( J:13980 )
• some heterozygotes are sterile




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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory