platelet storage pool deficiency Disease Ontology Browser

Disease Ontology Browser

platelet storage pool deficiency (DOID:2223)
Alliance: disease page
Synonyms: Dense body defect; Platelet dense granule deficiency; Platelet storage pool defect
Alt IDs: OMIM:185050, MESH:D010981, UMLS_CUI:C0032197

Disease References using Mouse Models (10)

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Ap3b1

Allelic Composition	Genetic Background	Reference	Phenotypes
Ap3b1pe-rim2/Ap3b1pe-rim2	involves: B10.A(R201) * C57BL/10Slc	J:42685	View
Ap3b1pe/Ap3b1pe	B6.C3-Ap3b1^pe/J	J:7327	View
Ap3b1pe/Ap3b1pe	involves: C3H/He	J:7327	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Ap3d1

Allelic Composition	Genetic Background	Reference	Phenotypes
Ap3d1mh/Ap3d1mh	B6.C3-Grxcr1^pi	J:29151	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Bloc1s5

Allelic Composition	Genetic Background	Reference	Phenotypes
Bloc1s5mu/Bloc1s5mu	CHMU/Le	J:29151	View
Bloc1s5mu/Bloc1s5mu	involves: STOCK t	J:29151	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Bloc1s6

Allelic Composition	Genetic Background	Reference	Phenotypes
Bloc1s6pa/Bloc1s6pa	B6.Cg-Bloc1s6^pa/J	J:7327	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Dock7

Allelic Composition	Genetic Background	Reference	Phenotypes
Dock7m/Dock7m	B6.D(Cg)-Dock7^m	J:45425	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Dtnbp1

Allelic Composition	Genetic Background	Reference	Phenotypes
Dtnbp1sdy/Dtnbp1sdy	involves: DBA/2J	J:1958	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Hps1

Allelic Composition	Genetic Background	Reference	Phenotypes
Hps1ep/Hps1ep	B6.C3Fe-Hps1^ep/J	J:7327	View
Hps1ep/Hps1ep	involves: C3HeB/FeJ * C57BL/6J	J:7327	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Hps3

Allelic Composition	Genetic Background	Reference	Phenotypes
Hps3coa-6J/Hps3coa-6J	C3H/HeJ-Hps3^coa-6J/J	J:63693	View
Hps3coa/Hps3coa	involves: C57BL/10J	J:9300	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Hps4

Allelic Composition	Genetic Background	Reference	Phenotypes
Hps4le/Hps4le	B6.C3-Pde6b^rd1 Hps4^le	J:7327	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Hps5

Allelic Composition	Genetic Background	Reference	Phenotypes
Hps5ru2-mr/Hps5ru2-mr	B6.Cg-Hps5^ru2-mr/Re	J:7327	View
Hps5ru2-mr/Hps5ru2-mr	Not Specified	J:7327	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Lyst

Allelic Composition	Genetic Background	Reference	Phenotypes
Lystbg-J/Lystbg-J	C57BL/6J-Lyst^bg-J/J	J:7327	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Rab27a

Allelic Composition	Genetic Background	Reference	Phenotypes
Rab27aash/Rab27aash Rab27btm1.2Seab/Rab27btm1.2Seab	involves: 129X1/SvJ * C3H/HeSn * C57BL/6J	J:120307	View
Rab27aash/Rab27aash	involves: C3H/HeDiSn	J:63231	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Rab27b

Allelic Composition	Genetic Background	Reference	Phenotypes
Rab27btm1.2Seab/Rab27btm1.2Seab	involves: 129X1/SvJ * C57BL/6J	J:120307	View
Rab27aash/Rab27aash Rab27btm1.2Seab/Rab27btm1.2Seab	involves: 129X1/SvJ * C3H/HeSn * C57BL/6J	J:120307	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency
Associated Mouse Gene: Slc7a11

Allelic Composition	Genetic Background	Reference	Phenotypes
Slc7a11sut/Slc7a11sut	C3H/HeSnJ-Slc7a11^sut/J	J:31616	View

Mouse Models

Human Disease Modeled: platelet storage pool deficiency

Allelic Composition	Genetic Background	Reference	Phenotypes
a/a Hps6ru/Hps6ru	B6.Cg-Hps6^ru	J:7327	View

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 03/25/2025 MGI 6.24