Symbol
Name
ID

Col7a1
collagen, type VII, alpha 1
MGI:88462

Phenotype annotations related to integument

Darker colors indicate more annotations

Human Phenotypes

Oral mucosal blisters

Palmoplantar blistering

Abnormal fingernail morphology

Abnormal toenail morphology

Dystrophic toenail

Abnormality of the subungual region

Anonychia

Small nail

Nail dysplasia

Nail dystrophy

Abnormal blistering of the skin

Pretibial blistering

Sub-lamina densa cleavage

Abnormality of skin pigmentation

Generalized abnormality of skin

Fragile skin

Localized skin lesion

Aplasia cutis congenita

Congenital localized absence of skin

Atrophic scars

Atypical scarring of skin

Keloids

Milia

Erythematous papule

Hyperkeratotic papule

Skin erosion

Skin vesicle

Hyperkeratosis

Pruritus

Disease(s) Associated with COL7A1

autosomal dominant dystrophic epidermolysis bullosa

epidermolysis bullosa with congenital localized absence of skin and deformity of nails

nonsyndromic congenital nail disorder 8

pretibial dystrophic epidermolysis bullosa

transient bullous dermolysis of the newborn

Mouse Phenotypes		abnormal nail morphology	abnormal dermal layer morphology	abnormal epidermal layer morphology	thick epidermis	dermal-epidermal separation	blistering
Availability	Mouse Genotype	abnormal nail morphology	abnormal dermal layer morphology	abnormal epidermal layer morphology	thick epidermis	dermal-epidermal separation	blistering
	Col7a1^em#Jtol/Col7a1^em#Jtol
	Col7a1^tm1Lbt/Col7a1^tm1Lbt
	Col7a1^tm1Uit/Col7a1^tm1Uit

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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