About   Help   FAQ
Symbol
Name
ID
Col1a1
collagen, type I, alpha 1
MGI:88467
Phenotype annotations related to growth/size/body
Darker colors indicate more annotations
Human Phenotypes
Rhizomelia
Splenomegaly
Hepatomegaly
Inguinal hernia
Umbilical hernia
Growth abnormality
Short stature
Disproportionate short-limb short stature
Neonatal short-limb short stature
Mild short stature
Small for gestational age
Growth delay
Intrauterine growth retardation
Disease(s) Associated with COL1A1
beta thalassemia
Ehlers-Danlos syndrome arthrochalasia type 1
osteogenesis imperfecta
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4

Mouse Phenotypes
myocardium hypertrophy
heart right ventricle hypertrophy
abnormal dental pulp cavity morphology
abnormal dentin mineralization
abnormal turbinate morphology
decreased body weight
abnormal chest morphology
decreased body length
decreased body size
thin body
Availability Mouse Genotype
Col1a1m1Btlr/Col1a1m1Btlr
Col1a1tm1Jae/Col1a1tm1Jae
Col1a1Aga2/Col1a1+
Col1a1M1Jrt/Col1a1+
Col1a1tm1.1Jcm/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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory