Col18a1 Phenotype Annotations

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

Allelic Composition Genetic Background	Annotated Term	Reference
Col18a1^{tm1.1(KOMP)Vlcg}/Col18a1^{tm1.1(KOMP)Vlcg} B6N(Cg)-Col18a1^{tm1.1(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
Col18a1^tm1Hms/Col18a1^tm1Hms B6.129S4-Col18a1^tm1Hms	abnormal ciliary body morphology	J:110852
	abnormal circulating enzyme level	J:167008
	abnormal cornea 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
Col18a1^tm1Hms/Col18a1^tm1Hms 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
Col18a1^tm1Hms/Col18a1^tm1Hms 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
Col18a1^tm1Pih/Col18a1^tm1Pih B6JOlaHsd.Cg-Col18a1^tm1Pih	abnormal proximal convoluted tubule morphology	J:170560
Col18a1^tm1Pih/Col18a1^tm1Pih B6JOlaHsd.Cg-Col18a1^tm1Pih	normal renal/urinary system phenotype	J:170560
Col18a1^tm2Pih/Col18a1^tm2Pih B6JOlaHsd.Cg-Col18a1^tm2Pih	abnormal renal glomerulus morphology	J:170560
	podocyte foot process effacement	J:170560
	normal renal/urinary system phenotype	J:170560

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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