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Symbol
Name
ID
Col1a1
collagen, type I, alpha 1
MGI:88467
Phenotype annotations related to integument
Darker colors indicate more annotations
Human Phenotypes
Bruising susceptibility
Palmoplantar hyperkeratosis
Hyperhidrosis
Cutis laxa
Hyperextensible skin
Soft, doughy skin
Poor wound healing
Atrophic scars
Thin skin
Skin ulcer
Pallor
Disease(s) Associated with COL1A1
aggressive periodontitis
beta thalassemia
dentinogenesis imperfecta
Ehlers-Danlos syndrome arthrochalasia type 1
osteogenesis imperfecta
osteogenesis imperfecta type 1
osteogenesis imperfecta type 2

Mouse Phenotypes
abnormal coat/hair pigmentation
focal hair loss
abnormal cutaneous collagen fibril morphology
abnormal dermal layer morphology
thick dermal layer
decreased skin tensile strength
Availability Mouse Genotype
Col1a1tm1Jae/Col1a1tm1Jae
Col1a1Aga2/Col1a1+
Col1a1M1Jrt/Col1a1+
Col1a1Mov13/Col1a1+
Col1a1tm1Jae/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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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory