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Gene: Gp6 MGI:1889810

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Gene Summary

Name:
glycoprotein 6 (platelet)
Synonyms:
9830166G18Rik,  Gpvi

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Gp6tm2b(EUCOMM)Hmgu HOM   Early adult 4.91×10-05
abnormal vibrissa morphology Gp6tm2b(EUCOMM)Hmgu HOM Early adult 2.16×10-05
abnormal eye anterior chamber depth Gp6tm2b(EUCOMM)Hmgu HOM Early adult 5.11×10-05
increased lymphocyte cell number Gp6tm2b(EUCOMM)Hmgu HOM Early adult 6.71×10-06
long tibia Gp6tm2b(EUCOMM)Hmgu HOM Early adult 2.72×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Gp6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gp6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... OMIM:614201

The table below shows human diseases predicted to be associated to Gp6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:608404
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... OMIM:614201
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Purpura, Epistaxis, Gingival bleeding, Menor... OMIM:231200
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... OMIM:617443
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... OMIM:613679
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... OMIM:277480
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... OMIM:601399
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... OMIM:139090
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Hermansky-Pudlak Syndrome 7
Post-partum hemorrhage, Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Menorr... OMIM:614076
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Storage Pool Platelet Disease
Prolonged bleeding time, Abnormal bleeding OMIM:185050
Hemophilia B
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... ORPHA:98879
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding OMIM:188025
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... OMIM:187900
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Impaired platelet aggregation, Bruising susceptibility, Epistax... OMIM:193400
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Prolonged bleeding time, Epistaxis, Petechiae OMIM:314050
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Conductive hearing impairment, Short foot, Broad tibial metaph... ORPHA:2502
Slc35A1-Cdg
Prolonged bleeding time, Pulmonary hemorrhage, Abnormal bleeding, Subcutaneous hemorrhage ORPHA:238459
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... OMIM:614074
Congenital Factor Ii Deficiency
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... ORPHA:325
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Sitosterolemia 1
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... OMIM:210250
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... OMIM:227600
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menorrhagia, Bruising susceptibility ORPHA:182050
Abcd Syndrome
Total intestinal aganglionosis, Albinism, Aganglionic megacolon, Abnormal auditory evoked potenti... OMIM:600501
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... ORPHA:93356
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Long eyelashes, Astigmatism, Broad finger, Low posterior hai... OMIM:617523
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Aganglionic megacolon, Fine hair, Lymphopenia, Long fibula, White hair, Abnormal metaphys... ORPHA:935
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... OMIM:300106
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Coxa valga, Abnormally prominent line of Schwal... OMIM:109120
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Acquired Partial Lipodystrophy
Lymphocytosis, Generalized hirsutism, Hearing impairment ORPHA:79087
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... ORPHA:274
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Bruising susceptibility ORPHA:3226
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Essential Thrombocythemia
Prolonged bleeding time ORPHA:3318
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Prolonged bleeding time, Hemat... OMIM:203300
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Hammertoe, Abnormal cranial nerve morphology, Prolonge... OMIM:601596
Acrocraniofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsal, Short 1s... OMIM:201050
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... OMIM:250220
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Synophrys, Irregular epiph... OMIM:619260
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas... ORPHA:169154
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Synophrys, M... OMIM:610442
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Curly hair, Trichorrhexis nodosa, Neutropenia, Lymphocytosis, Chronic irrita... OMIM:258360
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Wiskott-Aldrich Syndrome
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... ORPHA:906
Mixed Connective Tissue Disease
Prolonged bleeding time, Purpura, Gastrointestinal hemorrhage ORPHA:809
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Hemolytic anemia, Abnormal aud... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Hemolytic anemia, Abnormal aud... ORPHA:529799
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of toe, Abnormal auditory evoked potentials, Camptodactyly, ... OMIM:193700
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag... ORPHA:335
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... ORPHA:324636
Acute Monoblastic/Monocytic Leukemia
Anemia, Progressive hearing impairment, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hy... ORPHA:514
Chédiak-Higashi Syndrome
Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Hemophagocytos... ORPHA:167
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Spondylometaphyseal Dysplasia, Sedaghatian Type
Iliac crest serration, Short metacarpal, Long fibula, Metaphyseal chondrodysplasia, Short palm, C... ORPHA:93317
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Aplastic anemia, Neutropenia, Sp... OMIM:308240
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Triangular shaped distal phalanges of the hand, Short m... OMIM:271665
Mogs-Cdg
Alopecia, Sensorineural hearing impairment, Optic atrophy, Fair hair, Absent brainstem auditory r... ORPHA:79330
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Prolonged prothrombin time ORPHA:49566
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Cockayne Syndrome B
Hypoplastic iliac wing, Dry hair, Sensorineural hearing impairment, Optic atrophy, Abnormal audit... OMIM:133540
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... ORPHA:3240
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... OMIM:619652
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, Bruising susc... ORPHA:99147
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... ORPHA:2968
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Mend Syndrome
2-3 toe syndactyly, Abnormal auditory evoked potentials, Hand polydactyly, Overlapping toe, Broad... ORPHA:401973
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly ORPHA:86843
Cockayne Syndrome A
Hypoplastic iliac wing, Dry hair, Sensorineural hearing impairment, Hip contracture, Optic atroph... OMIM:216400
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Cockayne Syndrome Type 1
Conjunctivitis, Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Abse... ORPHA:90321
Trisomy 10P
Short toe, Contracture of thumb, Macrotia, Low voltage EEG, EEG with burst suppression, EEG with ... ORPHA:171929
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, Fl... ORPHA:101085
Wiskott-Aldrich Syndrome
Petechiae, Purpura, Epistaxis, Prolonged bleeding time, Gingival bleeding, Hematemesis, Melena OMIM:301000
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function ORPHA:648
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal finger morphology, Abnorm... ORPHA:909
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Metaphyseal dysplasia, Neutropenia ORPHA:1667
X-Linked Lymphoproliferative Disease
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... ORPHA:2442
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Abnormality of the spleen, Myeloproliferative disorder ORPHA:79456
Relapsing Fever
Epistaxis, Abnormal bleeding, Prolonged prothrombin time ORPHA:91547
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... ORPHA:3261
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Hepatoportal Sclerosis
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage ORPHA:64743
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Bruising susceptibility, Ecchymosis ORPHA:287
Liver Failure, Infantile, Transient
Prolonged prothrombin time OMIM:613070
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Sialuria
Prolonged prothrombin time ORPHA:3166
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... OMIM:301074
Monosomy 13Q34
Epistaxis, Hematochezia, Prolonged prothrombin time ORPHA:96168
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia ORPHA:139402
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Prolonged prothrombin time OMIM:616271
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time OMIM:267700
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage ORPHA:244242
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time OMIM:603553
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time OMIM:212750
Kasabach-Merritt Syndrome
Purpura, Prolonged prothrombin time, Petechiae ORPHA:2330
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time OMIM:212065
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time OMIM:617941
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Kikuchi-Fujimoto Disease
Alopecia, Leukopenia, Anemia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:50918
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Alg12-Cdg
Prolonged prothrombin time ORPHA:79324
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time ORPHA:20
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Tyrosinemia, Type I
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena OMIM:276700
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage ORPHA:247598
Liver Disease, Severe Congenital
Dry hair, Anemia, Leukopenia, Lymphocytosis, Cholesteatoma, Nail dystrophy, Thrombocytopenia, Spl... OMIM:619991
Marburg Hemorrhagic Fever
Petechiae, Abnormal bleeding, Internal hemorrhage, Bruising susceptibility, Prolonged prothrombin... ORPHA:99826
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Acute Liver Failure
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Prolonged prothrombin time, ... ORPHA:90062
Yellow Fever
Abnormal bleeding, Internal hemorrhage, Prolonged prothrombin time, Hematemesis, Excessive bleedi... ORPHA:99829
Primary Sclerosing Cholangitis
Prolonged prothrombin time ORPHA:171
Congenital Disorder Of Glycosylation, Type Iiw
Bleeding with minor or no trauma, Prolonged prothrombin time OMIM:619525

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gp6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gp6.

No publications found that use IMPC mice or data for Gp6.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gp6tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gp6tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Gp6tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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