About Help FAQ

Symbol
Name
ID

Abca12
ATP-binding cassette, sub-family A member 12
MGI:2676312

Phenotype annotations related to integument

Darker colors indicate more annotations

Human Phenotypes

Aplasia/Hypoplasia of the eyebrow

Palmoplantar hyperkeratosis

Palmoplantar keratoderma

Desquamation of skin soon after birth

Erythroderma

Alopecia

Sparse hair

Abnormality of the nail

Leukonychia

Nail dysplasia

Nail dystrophy

Hypohidrosis

Lack of skin elasticity

Epidermal acanthosis

Scaling skin

Palmoplantar scaling skin

Dry skin

Thickened skin

Hyperkeratosis

Ichthyosis

Congenital ichthyosiform erythroderma

Congenital nonbullous ichthyosiform erythroderma

Parakeratosis

Pruritus

Disease(s) Associated with ABCA12

autosomal recessive congenital ichthyosis 1

autosomal recessive congenital ichthyosis 4A

autosomal recessive congenital ichthyosis 4B

Mouse Phenotypes

impaired skin barrier function

abnormal skin morphology

abnormal epidermal layer morphology

abnormal epidermis stratum basale morphology

abnormal epidermis stratum corneum morphology

abnormal corneocyte envelope morphology

hyperkeratosis

parakeratosis

impaired stratum corneum desquamation

abnormal epidermal lamellar body morphology

thick epidermis stratum granulosum

thin epidermis stratum spinosum

epidermal desquamation

thin epidermis

abnormal skin appearance

dry skin

reddish skin

scaly skin

shiny skin

skin lesions

tight skin

translucent skin

abnormal skin condition

abnormal skin development

abnormal keratinocyte physiology

Availability

Mouse Genotype

Abca12^el12/Abca12^el12

Abca12^em1(IMPC)J/Abca12^em1(IMPC)J

Abca12^smsk/Abca12^smsk

Abca12^tm1Lex/Abca12^tm1Lex

Abca12^tm1Shzu/Abca12^tm1Shzu

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 04/09/2024 MGI 6.23