Pnpla1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Pnpla1
patatin-like phospholipase domain containing 1
MGI:3617850

38 phenotypes from 5 alleles in 4 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Pnpla1^tm1.1Fpwr/Pnpla1^tm1.1Fpwr B6.129P2(Cg)-Pnpla1^tm1.1Fpwr	abnormal ceramide level	J:240053
	abnormal epidermal layer morphology	J:240053
	abnormal skin development	J:240053
	abnormal skin morphology	J:240053
	abnormal tail tip morphology	J:240053
	absent gastric milk in neonates	J:240053
	acanthosis	J:240053
	decreased embryo size	J:240053
	decreased embryo weight	J:240053
	decreased locomotor activity	J:240053
	dry skin	J:240053
	hyperkeratosis	J:240053
	impaired skin barrier function	J:240053
	impaired stratum corneum desquamation	J:240053
	neonatal lethality, complete penetrance	J:240053
	reddish skin	J:240053
	shiny skin	J:240053
	wrinkled skin	J:240053
Pnpla1^tm1.1Murm/Pnpla1^tm1.1Murm Tg(KRT14-cre/ERT2)1Ipc/0 involves: C57BL/6N	abnormal ceramide level	J:240682
	abnormal epidermis stratum corneum morphology	J:240682
	epidermal desquamation	J:240682
	impaired skin barrier function	J:240682
	postnatal lethality, complete penetrance	J:240682
Pnpla1^{tm1a(KOMP)Wtsi}/Pnpla1^{tm1a(KOMP)Wtsi} B6NTac;B6N-A^tm1Brd Pnpla1^{tm1a(KOMP)Wtsi}/Ics	abnormal ceramide level	J:242353
	abnormal epidermis stratum corneum morphology	J:242353
	abnormal free fatty acids level	J:242353
	abnormal motor capabilities/coordination/movement	J:242353
	abnormal sphingomyelin level	J:242353
	abnormal stratum corneum lipid matrix formation	J:242353
	absent gastric milk in neonates	J:242353
	acanthosis	J:242353
	decreased birth weight	J:242353
	decreased fatty acids level	J:242353
	decreased keratohyalin granule number	J:242353
	decreased keratohyalin granule size	J:242353
	eclabion	J:242353
	hyperkeratosis	J:242353
	impaired skin barrier function	J:242353
	impaired stratum corneum desquamation	J:242353
	neonatal lethality, complete penetrance	J:242353
	shiny skin	J:242353
	tight skin	J:242353
Pnpla1^{tm1b(KOMP)Wtsi}/Pnpla1⁺ C57BL/6N-Pnpla1^{tm1b(KOMP)Wtsi}/Ics	increased body length	J:211773
Pnpla1^{tm1b(KOMP)Wtsi}/Pnpla1^{tm1b(KOMP)Wtsi} C57BL/6N-Pnpla1^{tm1b(KOMP)Wtsi}/Ics	preweaning lethality, incomplete penetrance	J:211773
Pnpla1^tm1Murm/Pnpla1^tm1Murm involves: C57BL/6N	abnormal ceramide level	J:240682
	abnormal epidermal lamellar body morphology	J:240682
	abnormal epidermis stratum corneum morphology	J:240682
	abnormal free fatty acids level	J:240682
	abnormal keratohyalin granule morphology	J:240682
	abnormal tail tip morphology	J:240682
	decreased keratohyalin granule number	J:240682
	epidermal hyperplasia	J:240682
	impaired skin barrier function	J:240682
	increased cholesterol level	J:240682
	increased triglyceride level	J:240682
	neonatal lethality, complete penetrance	J:240682
	shiny skin	J:240682
	tight skin	J:240682

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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