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Symbol Name ID |
Pnpla1
patatin-like phospholipase domain containing 1 MGI:3617850 |
| Darker colors indicate more annotations |
| Human Phenotypes | Palmoplantar keratoderma |
Erythroderma |
Hypergranulosis |
Hyperkeratosis |
Orthokeratotic hyperkeratosis |
Congenital nonbullous ichthyosiform erythroderma |
Generalized ichthyosis |
| Disease(s) Associated with PNPLA1 | |||||||
| autosomal recessive congenital ichthyosis 10 |
| Mouse Phenotypes | impaired skin barrier function |
abnormal skin morphology |
abnormal epidermal layer morphology |
abnormal epidermis stratum corneum morphology |
abnormal stratum corneum lipid matrix formation |
hyperkeratosis |
impaired stratum corneum desquamation |
abnormal epidermal lamellar body morphology |
abnormal keratohyalin granule morphology |
decreased keratohyalin granule number |
decreased keratohyalin granule size |
acanthosis |
epidermal desquamation |
epidermal hyperplasia |
dry skin |
reddish skin |
shiny skin |
tight skin |
wrinkled skin |
abnormal skin development |
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| Availability | Mouse Genotype | ||||||||||||||||||||
| Pnpla1tm1.1Fpwr/Pnpla1tm1.1Fpwr | |||||||||||||||||||||
| Pnpla1tm1a(KOMP)Wtsi/Pnpla1tm1a(KOMP)Wtsi | |||||||||||||||||||||
| Pnpla1tm1Murm/Pnpla1tm1Murm | |||||||||||||||||||||
| Pnpla1tm1.1Murm/Pnpla1tm1.1Murm Tg(KRT14-cre/ERT2)1Ipc/0 (conditional) |
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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 05/07/2024 MGI 6.23 |
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