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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Col4a1
collagen, type IV, alpha 1
MGI:88454
99 phenotypes from 14 alleles in 15 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Col4a1Acso/Col4a1+
C3.Cg-Col4a1Acso 		abnormal lens capsule morphology J:163225
decreased erythrocyte cell number J:163225
decreased hematocrit J:163225
decreased hemoglobin content J:163225
normal nervous system phenotype J:163225
sutural cataract J:163225
Col4a1Acso/Col4a1Acso
C3.Cg-Col4a1Acso 		lethality throughout fetal growth and development, complete penetrance J:163225
Col4a1Bru/Col4a1+
Not Specified 		abnormal iris morphology J:13980
anemia J:13980
anterior iris synechia J:13980
bruising J:13980
buphthalmos J:13980
cataract J:13980
decreased body size J:13980
infertility J:13980
postnatal lethality, incomplete penetrance J:13980
Col4a1Bru/Col4a1Bru
Not Specified 		prenatal lethality, complete penetrance J:13980
Col4a1D456/Col4a1+
C3.D2-Col4a1D456 		abnormal brain morphology J:163225
cataract J:163225
decreased erythrocyte cell number J:163225
decreased hematocrit J:163225
decreased hemoglobin content J:163225
lens vacuoles J:163225
microphthalmia J:163225
Col4a1D456/Col4a1D456
C3.D2-Col4a1D456 		lethality throughout fetal growth and development, complete penetrance J:163225
Col4a1deltaex40/Col4a1+
B6.129S-Col4a1deltaex40 		abnormal basement membrane morphology J:215446
abnormal blood vessel morphology J:215446
abnormal eye morphology J:98572
abnormal kidney morphology J:98572
abnormal retina blood vessel pattern J:215446
brain lesion J:98572
cyanosis J:215446
decreased body size J:98572
increased urine microalbumin level J:215446
intracerebral hemorrhage J:98572, J:215446
perinatal lethality, incomplete penetrance J:98572
premature death J:215446
reduced fertility J:98572
respiratory distress J:215446
seizures J:215446
subarachnoid hemorrhage J:215446
weakness J:215446
Col4a1deltaex40/Col4a1+
involves: 129S/SvEv * C57BL/6J 		abnormal brain pia mater morphology J:172720
abnormal cerebral cortex morphology J:172720
abnormal hippocampus morphology J:172720
abnormal retina ganglion cell morphology J:172720
abnormal retina inner limiting membrane morphology J:172720
abnormal retina morphology J:172720
abnormal retina neuronal layer morphology J:172720
abnormal retina vasculature morphology J:172720
astrocytosis J:172720
decreased grip strength J:172720
delaminated cerebral cortex J:172720
enlarged brain ventricles J:172720
increased circulating creatine kinase level J:172720
microphthalmia J:172720
myopathy J:172720
optic nerve hypoplasia J:172720
Col4a1deltaex40/Col4a1+
involves: 129S/SvEv * C57BL/6J * CAST/EiJ 		myopathy J:172720
Col4a1deltaex40/Col4a1deltaex40
B6.129S-Col4a1deltaex40 		abnormal parietal endoderm morphology J:98572
abnormal Reichert's membrane morphology J:98572
embryonic lethality, complete penetrance J:98572
Col4a1ENU911/Col4a1+
C3.Cg-Col4a1ENU911 		anterior polar cataract J:163225
cornea opacity J:163225
cornea vascularization J:163225
decreased erythrocyte cell number J:163225
decreased hematocrit J:163225
decreased hemoglobin content J:163225
lens vacuoles J:163225
microphthalmia J:163225
normal nervous system phenotype J:163225
Col4a1ENU911/Col4a1ENU911
C3.Cg-Col4a1ENU911 		lethality throughout fetal growth and development, complete penetrance J:163225
Col4a1ENU4004/Col4a1+
C3.D2-Col4a1ENU4004 		anterior polar cataract J:163225
decreased erythrocyte cell number J:163225
decreased hematocrit J:163225
decreased hemoglobin content J:163225
eye hemorrhage J:163225
lens vacuoles J:163225
total cataract J:163225
Col4a1ENU4004/Col4a1ENU4004
C3.D2-Col4a1ENU4004 		lethality throughout fetal growth and development, complete penetrance J:163225
Col4a1ENU6005/Col4a1+
C3H/HeJ-Col4a1ENU6005 		abnormal brain morphology J:163225
anterior polar cataract J:163225
decreased erythrocyte cell number J:163225
decreased hematocrit J:163225
decreased hemoglobin content J:163225
lens vacuoles J:163225
Col4a1ENU6005/Col4a1ENU6005
C3H/HeJ-Col4a1ENU6005 		lethality throughout fetal growth and development, complete penetrance J:163225
Col4a1ENU6009/Col4a1+
C3H/HeJ-Col4a1ENU6009 		anterior polar cataract J:163225
decreased erythrocyte cell number J:163225
decreased hematocrit J:163225
decreased hemoglobin content J:163225
Col4a1ENU6009/Col4a1ENU6009
C3H/HeJ-Col4a1ENU6009 		lethality throughout fetal growth and development, complete penetrance J:163225
Col4a1ENU6019/Col4a1+
C3H/HeJ-Col4a1ENU6019 		anterior polar cataract J:163225
decreased erythrocyte cell number J:163225
decreased hematocrit J:163225
decreased hemoglobin content J:163225
Col4a1ENU6024/Col4a1+
C3H/HeJ-Col4a1ENU6024 		anterior polar cataract J:163225
decreased erythrocyte cell number J:163225
decreased hematocrit J:163225
decreased hemoglobin content J:163225
Col4a1F247/Col4a1+
C3.Cg-Col4a1F247 		abnormal brain morphology J:163225
abnormal lens capsule morphology J:163225
abnormal lens morphology J:163225
cataract J:163225
decreased erythrocyte cell number J:163225
decreased hematocrit J:163225
decreased hemoglobin content J:163225
Col4a1Raw/Col4a1+
involves: BALB/cAnN * C3H/HeN 		abnormal retina morphology J:75964
bruising J:75964
Col4a1Svc/Col4a1+
involves: BALB/cAnN * C3H/HeN 		abnormal cornea morphology J:75964
abnormal retina morphology J:75964
anterior iris synechia J:75964
anterior subcapsular cataract J:75964
bruising J:75964
buphthalmos J:75964
cornea opacity J:75964
decreased body size J:75964
irregularly shaped pupil J:75964
vitreal fibroplasia J:75964
Col4a1tm1.1Ics/Col4a1+
involves: 129S2/SvPas * C57BL/6 		abnormal glomerular capsule parietal layer morphology J:240798
abnormal glomerular mesangium morphology J:240798
abnormal kidney physiology J:240798
abnormal podocyte foot process morphology J:240798
abnormal podocyte morphology J:240798
abnormal podocyte slit diaphragm morphology J:240798
abnormal proximal convoluted tubule morphology J:240798
abnormal renal glomerulus basement membrane morphology J:240798
abnormal retina blood vessel pattern J:240798
abnormal urine albumin level J:240798
albuminuria J:240798
dystrophic muscle J:240798
erythrocyturia J:240798
hematuria J:240798
intracranial hemorrhage J:240798
kidney inflammation J:240798
parietal capsular epithelium metaplasia J:240798
renal glomerulus cyst J:240798
Col4a1tm1.1Ics/Col4a1tm1.1Ics
involves: 129S2/SvPas * C57BL/6 		abnormal glomerular capsule parietal layer morphology J:240798
abnormal glomerular mesangium morphology J:240798
abnormal kidney collecting duct epithelium morphology J:240798
abnormal kidney collecting duct morphology J:240798
abnormal kidney papilla morphology J:240798
abnormal kidney physiology J:240798
abnormal podocyte morphology J:240798
abnormal podocyte slit diaphragm morphology J:240798
abnormal proximal convoluted tubule morphology J:240798
abnormal renal glomerular capsule morphology J:240798
abnormal renal glomerulus basement membrane morphology J:240798
abnormal renal glomerulus morphology J:240798
abnormal retina blood vessel pattern J:240798
abnormal urine albumin level J:240798
albuminuria J:240798
decreased body weight J:240798
decreased collagen level J:240798
decreased urine osmolality J:240798
delayed kidney development J:240798
dilated glomerular capillary J:240798
dilated kidney collecting duct J:240798
dilated proximal convoluted tubule J:240798
dystrophic muscle J:240798
erythrocyturia J:240798
hematuria J:240798
increased blood urea nitrogen level J:240798
increased glomerular capsule space J:240798
intracranial hemorrhage J:240798
kidney inflammation J:240798
parietal capsular epithelium metaplasia J:240798
podocyte foot process effacement J:240798
polyuria J:240798
prenatal lethality, incomplete penetrance J:240798
renal cast J:240798
renal glomerulus cyst J:240798
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory