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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Col18a1
collagen, type XVIII, alpha 1
MGI:88451
48 phenotypes from 4 alleles in 6 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Col18a1tm1.1(KOMP)Vlcg/Col18a1tm1.1(KOMP)Vlcg
B6N(Cg)-Col18a1tm1.1(KOMP)Vlcg/J
abnormal iris pigmentation J:211773
abnormal lens morphology J:211773
abnormal optic disk morphology J:211773
abnormal placement of pupils J:211773
abnormal retina blood vessel morphology J:211773
abnormal retina morphology J:211773
abnormal retina vasculature morphology J:211773
decreased circulating glucose level J:211773
decreased circulating HDL cholesterol level J:211773
hyperactivity J:211773
increased circulating free fatty acids level J:211773
increased circulating triglyceride level J:211773
increased fasting circulating glucose level J:211773
increased vertical activity J:211773
irregularly shaped pupil J:211773
Col18a1tm1Hms/Col18a1tm1Hms
B6.129S4-Col18a1tm1Hms
abnormal ciliary body morphology J:110852
abnormal circulating enzyme level J:167008
abnormal corneal epithelium morphology J:110852
abnormal enzyme/coenzyme level J:167008
abnormal iris morphology J:110852
abnormal iris pigment epithelium J:110852
abnormal iris stromal pigmentation J:110852
abnormal proximal convoluted tubule morphology J:170560
abnormal pupil morphology J:110852
abnormal renal glomerulus morphology J:170560
abnormal retina morphology J:110852
abnormal retina vasculature morphology J:110852
impaired lipolysis J:167008
increased circulating triglyceride level J:167008
increased circulating VLDL triglyceride level J:167008
normal neoplasm J:75861
podocyte foot process effacement J:170560
normal renal/urinary system phenotype J:170560
Col18a1tm1Hms/Col18a1tm1Hms
either: (involves: 129S4/SvJae * 129X1/SvJ) or (involves: 129S4/SvJae * C57BL/6J)
abnormal basement membrane morphology J:75861
abnormal retina vasculature morphology J:75861
abnormal vitreous body morphology J:75861
persistence of hyaloid vascular system J:75861
Col18a1tm1Hms/Col18a1tm1Hms
involves: 129S4/SvJae * C57BL/6J * C57BL/6JOlaHsd
abnormal basement membrane morphology J:92842
abnormal brain ependyma motile cilium morphology J:92842
abnormal brain morphology J:92842
abnormal choroid plexus morphology J:92842
abnormal cranium morphology J:92842
abnormal mesangial matrix morphology J:92842
abnormal proximal convoluted tubule morphology J:92842
abnormal tricuspid valve cusp morphology J:92842
dilated fourth ventricle J:92842
dilated lateral ventricle J:92842
dilated third ventricle J:92842
enlarged brain ventricles J:92842
enlarged cranium J:92842
expanded mesangial matrix J:92842
hydrocephaly J:92842
increased circulating creatinine level J:92842
subarachnoid hemorrhage J:92842
Col18a1tm1Pih/Col18a1tm1Pih
B6JOlaHsd.Cg-Col18a1tm1Pih
abnormal proximal convoluted tubule morphology J:170560
normal renal/urinary system phenotype J:170560
Col18a1tm2Pih/Col18a1tm2Pih
B6JOlaHsd.Cg-Col18a1tm2Pih
abnormal renal glomerulus morphology J:170560
podocyte foot process effacement J:170560
normal renal/urinary system phenotype J:170560

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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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory