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Symbol
Name
ID

Col2a1
collagen, type II, alpha 1
MGI:88452

Phenotype annotations related to respiratory system

Darker colors indicate more annotations

Human Phenotypes	Recurrent respiratory infections	Abnormal respiratory system physiology	Respiratory distress	Pulmonary hypoplasia	Tracheomalacia	Laryngotracheomalacia	Restrictive ventilatory defect
Disease(s) Associated with COL2A1	Recurrent respiratory infections	Abnormal respiratory system physiology	Respiratory distress	Pulmonary hypoplasia	Tracheomalacia	Laryngotracheomalacia	Restrictive ventilatory defect
Kniest dysplasia
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Stickler syndrome
Torrance type platyspondylic dysplasia

Mouse Phenotypes		nasal bone hypoplasia	short nasal bone	absent nasal cavity	absent nasal septum	pulmonary hypoplasia	abnormal pulmonary alveolus morphology	abnormal lung volume	respiratory distress
Availability	Mouse Genotype	nasal bone hypoplasia	short nasal bone	absent nasal cavity	absent nasal septum	pulmonary hypoplasia	abnormal pulmonary alveolus morphology	abnormal lung volume	respiratory distress
	Col2a1^Dmm/Col2a1^Dmm
	Col2a1^tm1.1Ksec/Col2a1^tm1.1Ksec
	Col2a1^tm1Dshh/Col2a1^tm1Dshh
	Col2a1^tm1Prc/Col2a1^tm1Prc
	Tg(Col2a1*R789C)#Waho/0

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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