Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 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
long tibia Gp6tm2b(EUCOMM)Hmgu HOM Early adult 2.72×10-05
abnormal auditory brainstem response Gp6tm2b(EUCOMM)Hmgu HOM   Early adult 4.91×10-05
increased lymphocyte cell number Gp6tm2b(EUCOMM)Hmgu HOM Early adult 6.71×10-06

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis 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 ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
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 Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Glanzmann Thrombasthenia 2
Epistaxis, Impaired ADP-induced platelet aggregation, Bruising susceptibility, Impaired epinephri... OMIM:619267
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Prolonged bleeding time, Ecchymosis, Epistaxis OMIM:614158
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:273800
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:608404
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Factor V Deficiency
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged prothrombin time, Prolonged bl... OMIM:227400
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Prolonged bleedi... OMIM:231200
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Impaired platelet aggregati... OMIM:277480
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Prolonged bleeding time, Abnormal bleeding OMIM:600208
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Acute myeloid leukemia, Abnormal d... OMIM:601399
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Sebastian syndrome
Prolonged bleeding time, Epistaxis OMIM:605249
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged bleeding time, Epistaxis OMIM:155100
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Storage Pool Platelet Disease
Prolonged bleeding time, Abnormal bleeding OMIM:185050
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding OMIM:188025
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... OMIM:193400
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Prolonged bleeding time, Epistaxis OMIM:314050
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity, Tal... OMIM:601382
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Abnormal bleeding, P... OMIM:187900
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged bleeding time, Epistaxis OMIM:614074
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Bowing of the legs, Broad tibial metaphyses, Short palm, Short fem... ORPHA:2502
Fechtner syndrome
Menorrhagia, Bruising susceptibility, Prolonged bleeding time, Abnormal bleeding OMIM:153640
Abcd Syndrome
Abnormal auditory evoked potentials, Albinism, Aganglionic megacolon, Hearing impairment OMIM:600501
Slc35A1-Cdg
Subcutaneous hemorrhage, Pulmonary hemorrhage, Prolonged bleeding time, Abnormal bleeding ORPHA:238459
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules OMIM:614075
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Myh9-Related Disease
Menorrhagia, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurrent epistaxis ORPHA:182050
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial hemorr... OMIM:227600
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Tibial bowing, Flared metaphysis, Shor... ORPHA:93356
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:35909
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Talipes cavus equinovarus, Decreased ner... OMIM:601455
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Fine hair, Anemia, Long fibula, White hair, Abnormality of the metaphysis,... ORPHA:935
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Reduced natural killer cell activi... OMIM:608233
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Coxa valga, Sensorineural hearing impairment, Abnormal aud... OMIM:109120
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Acquired Partial Lipodystrophy
Generalized hirsutism, Lymphocytosis, Hearing impairment ORPHA:79087
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time ORPHA:3226
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, Short toe, Narrow greater sciatic notch, Brachydactyly, Cone-sh... OMIM:250220
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the tibial metaphysis ORPHA:2768
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Hermansky-Pudlak Syndrome 1
Hematochezia, Bruising susceptibility, Ecchymosis, Gingival bleeding, Prolonged bleeding time, Ep... OMIM:203300
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Essential Thrombocythemia
Prolonged bleeding time ORPHA:3318
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Acrocraniofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Metatarsus adductus, Abnormal au... OMIM:201050
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Delayed epiphy... OMIM:600785
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregat... ORPHA:79329
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:169154
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Narrow iliac wing, Irregular epiphyses, Metaphyseal irregularity, Short f... OMIM:610442
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Sparse pubic hair, Trichorrhexis nodosa, ... OMIM:258360
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Sensorineural hearing impairment, Cataract, Abnormal auditory evoked potenti... OMIM:619260
Fibular Hemimelia
Fibular hypoplasia, Abnormal morphology of ulna, Short tibia, Short toe, Arthralgia of the hip, G... ORPHA:93323
Mixed Connective Tissue Disease
Purpura, Prolonged bleeding time, Gastrointestinal hemorrhage ORPHA:809
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Bowing of the legs, Short long bone, Flared iliac wing, Short metacarpal, Epiphyseal stippling, A... OMIM:271665
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Impaired platelet a... ORPHA:324636
Arthrogryposis, Distal, Type 2A
Hearing impairment, Rocker bottom foot, Abnormal auditory evoked potentials, Adducted thumb, Shou... OMIM:193700
Chronic Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal auditory evoked poten... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal auditory evoked poten... ORPHA:529799
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Wiskott-Aldrich Syndrome
Microcytic anemia, Chronic leukemia, Abnormal platelet function, Abnormal eosinophil morphology, ... ORPHA:906
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short palm, Short metacarpal, Rhizomelic arm shortening, Cone-shaped epiphysis, Metaphyseal chond... ORPHA:93317
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Chédiak-Higashi Syndrome
Pancytopenia, Abnormal platelet function, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocy... ORPHA:167
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Acute Monoblastic/Monocytic Leukemia
Progressive hearing impairment, Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemi... ORPHA:514
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Gingival ble... ORPHA:335
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcyt... ORPHA:3240
Kyphomelic Dysplasia
Pterygium, Low-set ears, Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micromelia, Ul... OMIM:211350
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Cockayne Syndrome B
Developmental cataract, Square pelvis bone, Hypoplasia of the iris, Abnormal hair morphology, Sen... OMIM:133540
Acquired Purpura Fulminans
Prolonged prothrombin time, Intracranial hemorrhage, Macular purpura, Internal hemorrhage ORPHA:49566
Leukocyte Adhesion Deficiency
Leukocytosis, Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Impaired platelet aggr... ORPHA:2968
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Mogs-Cdg
Fair hair, Hepatosplenomegaly, Long eyelashes, Sensorineural hearing impairment, Overlapping fing... ORPHA:79330
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hemorrhage, Subcutane... ORPHA:99147
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Wiskott-Aldrich Syndrome, Autosomal Dominant
Gingival bleeding, Prolonged bleeding time, Epistaxis OMIM:600903
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyebrow, Hepatosplenomegaly, Heterochromia iridis, Sensorineural hearing impairment, White ... OMIM:609136
Trisomy 10P
Low-set ears, Flexion contracture of thumb, Ulnar deviated club hands, EEG with burst suppression... ORPHA:171929
Wiskott-Aldrich Syndrome
Petechiae, Purpura, Gingival bleeding, Hematemesis, Melena, Prolonged bleeding time, Epistaxis OMIM:301000
Mend Syndrome
2-3 toe syndactyly, Low-set ears, Overlapping fingers, Cataract, Hand polydactyly, Broad hallux, ... ORPHA:401973
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, Acute myelomonocytic leukemia ORPHA:86843
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Cockayne Syndrome A
Square pelvis bone, Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairmen... OMIM:216400
Cockayne Syndrome Type 1
Hearing impairment, Cataract, Conjunctivitis, Anemia, Macrotia, Absent brainstem auditory respons... ORPHA:90321
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Noonan Syndrome
Abnormal platelet function, Abnormality of the spleen ORPHA:648
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Abnormality of finger, Optic neuropathy, Decrease... ORPHA:909
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absen... ORPHA:911
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
X-Linked Lymphoproliferative Disease
Pancytopenia, T lymphocytopenia, Hepatosplenomegaly, Histiocytosis, Absent natural killer cells, ... ORPHA:2442
Wolcott-Rallison Syndrome
Neutropenia, Iron deficiency anemia, Lymphocytosis, Metaphyseal dysplasia ORPHA:1667
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... ORPHA:3261
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Epistaxis ORPHA:91547
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Hepatoportal Sclerosis
Prolonged prothrombin time, Abnormal bleeding, Gastrointestinal hemorrhage ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Prolonged bleeding time, Ecchymosis ORPHA:287
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis ORPHA:96168
Sialuria
Prolonged prothrombin time ORPHA:3166
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time OMIM:267700
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage ORPHA:244242
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time OMIM:212065
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time OMIM:617941
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time OMIM:603553
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time OMIM:212750
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Kasabach-Merritt Syndrome
Petechiae, Prolonged prothrombin time, Purpura ORPHA:2330
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Neutropenia, Anemia, Alopecia, Lymphocytosis, Thrombocytopenia ORPHA:50918
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time ORPHA:20
Alg12-Cdg
Prolonged prothrombin time ORPHA:79324
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Abetalipoproteinemia
Prolonged prothrombin time, Abnormal bleeding ORPHA:14
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Bruising susceptibility, Petechiae, Excessive bleeding after a venipu... ORPHA:99826
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gastrointestinal hemorrhage ORPHA:247598
Acute Liver Failure
Bruising susceptibility, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged prothrombin ti... ORPHA:90062
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Yellow Fever
Excessive bleeding after a venipuncture, Hematemesis, Prolonged prothrombin time, Abnormal bleedi... ORPHA:99829
Primary Sclerosing Cholangitis
Prolonged prothrombin time ORPHA:171
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Bleeding with minor or no trauma 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.

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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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