×
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
A mutation in Rab27a causes the vesicle transport defects observed in ashen mice.
10859366 2000
×
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse.
10381507 1999
×
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
10193444 1999
×
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping.
9434937 1998
×
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Mouse models of Hermansky Pudlak syndrome: a review.
9585243 1998
×
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles.
9697856 1998
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome.
9256466 1997
×
Entrez Id: 84062
Gene Symbol: DTNBP1
DTNBP1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Sandy: a new mouse model for platelet storage pool deficiency.
1936982 1991
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function.
2369371 1990
×
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Retinopretectal and accessory optic projections of normal mice and the OKN-defective mutant mice beige, beige-J, and pearl.
3584547 1987
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways.
3922995 1985
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci.
6696991 1984
×
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci.
6696991 1984
×
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Transposable elements controlling genetic instabilities in mammals.
6279728 1982
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity.
7089489 1982
×
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Characterization of abnormalities in the visual system of the mutant mouse pearl.
7310489 1981
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Lysosomal dysfunctions associated with mutations at mouse pigment genes.
115747 1979
×
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Genetic control of retinal ganglion cell projections.
102659 1978
×
Entrez Id: 8943
Gene Symbol: AP3D1
AP3D1
Platelet Storage Pool Deficiency
0.210
Biomarker
MGD
Mocha, a new coat color and behavior mutation on chromosome 10 of the mouse.
4448900 1975
×
Entrez Id: 1130
Gene Symbol: LYST
LYST
Platelet Storage Pool Deficiency
0.200
Biomarker
MGD
Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome.
19029039 2009
×
Entrez Id: 1130
Gene Symbol: LYST
LYST
Platelet Storage Pool Deficiency
0.200
Biomarker
MGD
Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.
18715234 2008
×
Entrez Id: 63915
Gene Symbol: BLOC1S5
BLOC1S5
Platelet Storage Pool Deficiency
0.200
Biomarker
MGD
Gravity receptor function in mice with graded otoconial deficiencies.
15109702 2004
×
Entrez Id: 63915
Gene Symbol: BLOC1S5
BLOC1S5
Platelet Storage Pool Deficiency
0.200
Biomarker
MGD
Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation.
15009730 2004
×
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
Platelet Storage Pool Deficiency
0.200
Biomarker
MGD
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
11836498 2002
×
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
Platelet Storage Pool Deficiency
0.200
Biomarker
MGD
Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.
12445206 2002