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Symbol
Name
ID

Col1a1
collagen, type I, alpha 1
MGI:88467

Phenotype annotations related to homeostasis/metabolism

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Abnormality of iron homeostasis	Nonimmune hydrops fetalis	Abnormality of temperature regulation	Fever	Hypercalciuria	Atrophic scars	Exercise intolerance
Disease(s) Associated with COL1A1	Abnormality of iron homeostasis	Nonimmune hydrops fetalis	Abnormality of temperature regulation	Fever	Hypercalciuria	Atrophic scars	Exercise intolerance
beta thalassemia
Caffey disease
Ehlers-Danlos syndrome arthrochalasia type 1
osteogenesis imperfecta
osteogenesis imperfecta type 2

Mouse Phenotypes		homeostasis/metabolism phenotype	decreased hydroxyproline level	abnormal blood gas level	increased circulating parathyroid hormone level	decreased circulating alkaline phosphatase level	abnormal enzyme/coenzyme level	abnormal hormone level	decreased collagen level	abnormal bone healing	decreased susceptibility to injury
Availability	Mouse Genotype	homeostasis/metabolism phenotype	decreased hydroxyproline level	abnormal blood gas level	increased circulating parathyroid hormone level	decreased circulating alkaline phosphatase level	abnormal enzyme/coenzyme level	abnormal hormone level	decreased collagen level	abnormal bone healing	decreased susceptibility to injury
	Col1a1^m1Btlr/Col1a1^m1Btlr
	Col1a1^tm1Dab/Col1a1^tm1Dab
	Col1a1^Aga2/Col1a1⁺
	Col1a1^M1Jrt/Col1a1⁺	*

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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