Human Disease and Mouse Model Detail

Human Disease

Term: Storage Pool Platelet Disease
OMIM ID: 185050

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

a	ASIP
Ap3b1	AP3B1
Ap3d1	AP3D1
Bloc1s5	BLOC1S5
Bloc1s6	BLOC1S6
Dock7	DOCK7
Dtnbp1	DTNBP1
Hps1	HPS1
Hps3	HPS3
Hps4	HPS4
Hps5	HPS5
Hps6	HPS6
Lyst	LYST
Rab27a	RAB27A
Rab27b	RAB27B
Slc7a11	SLC7A11

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.¹
a/a Hps6^ru/Hps6^ru		B6.Cg-Hps6^ru	J:7327
Ap3b1^pe-rim2/Ap3b1^pe-rim2		involves: B10.A(R201) * C57BL/10Slc	J:42685
Ap3b1^pe/Ap3b1^pe		B6.C3-Ap3b1^pe/J	J:7327
Ap3b1^pe/Ap3b1^pe		involves: C3H/He	J:7327
Ap3d1^mh/Ap3d1^mh		B6.C3-Grxcr1^pi	J:29151
Bloc1s5^mu/Bloc1s5^mu		involves: Stock t	J:29151
Bloc1s5^mu/Bloc1s5^mu		CHMU/Le	J:29151
Bloc1s6^pa/Bloc1s6^pa		B6.Cg-Bloc1s6^pa/J	J:7327
Dock7^m/Dock7^m		B6.D(Cg)-Dock7^m	J:45425
Dtnbp1^sdy/Dtnbp1^sdy		involves: DBA/2J	J:1958
Hps1^ep/Hps1^ep		B6.C3Fe-Hps1^ep/J	J:7327
Hps1^ep/Hps1^ep		involves: C3HeB/FeJ * C57BL/6J	J:7327
Hps3^coa-6J/Hps3^coa-6J		C3H/HeJ	J:63693
Hps3^coa/Hps3^coa		involves: C57BL/10J	J:9300
Hps4^le/Hps4^le		B6.C3-Pde6b^rd1 Hps4^le	J:7327
Hps5^ru2-mr/Hps5^ru2-mr		Not Specified	J:7327
Hps5^ru2-mr/Hps5^ru2-mr		B6.Cg-Hps5^ru2-mr/Re	J:7327
Lyst^bg-J/Lyst^bg-J		C57BL/6J-Lyst^bg-J/J	J:7327
Rab27a^ash/Rab27a^ash		C3H/HeDiSn	J:63231
Rab27a^ash/Rab27a^ash Rab27b^tm1.2Seab/Rab27b^tm1.2Seab		involves: 129X1/SvJ * C3H/HeSn * C57BL/6J	J:120307
Rab27b^tm1.2Seab/Rab27b^tm1.2Seab		involves: 129X1/SvJ * C57BL/6J	J:120307
Slc7a11^sut/Slc7a11^sut		C3H/HeSnJ	J:31616

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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