Gene Summary

Name:
syntaxin 8
Synonyms:
1110002H11Rik,  4930571E13Rik,  0610007H08Rik

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
increased lumbar vertebrae number Stx8tm2a(EUCOMM)Wtsi HOM Early adult 5.18×10-06
increased circulating alanine transaminase level Stx8tm2a(EUCOMM)Wtsi HOM Early adult 6.58×10-05
increased lactate dehydrogenase level Stx8tm2a(EUCOMM)Wtsi HOM Early adult 2.89×10-09
increased circulating alkaline phosphatase level Stx8tm2a(EUCOMM)Wtsi HOM Early adult 7.05×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Ambiguous
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote Ambiguous
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote Ambiguous
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 113 images

Human diseases caused by Stx8 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Stx8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Athrombia, Essential
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion OMIM:209050
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in... OMIM:619267
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Platelet Disorder, Undefined
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Proximal Myopathy With Focal Depletion Of Mitochondria
Elevated circulating creatine kinase concentration OMIM:600706
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding time, Impaired platelet aggregation,... OMIM:273800
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Tatsumi Factor Deficiency
Prolonged bleeding time OMIM:272650
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... OMIM:173470
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Prolonged bleeding time, Abnormal alpha granule content, Thromboc... OMIM:601399
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Von Willebrand Disease, Type 3
Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:277480
Bernard-Soulier Syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Impaired ristocetin-induced platelet ... OMIM:231200
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Reduced natural killer cell activity, Impaired neu... OMIM:619374
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Hermansky-Pudlak Syndrome 6
Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet aggregation OMIM:614075
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia OMIM:600208
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Abnormal platelet morphology, Impaired platelet aggregation OMIM:300835
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Sebastian syndrome
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:605249
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time OMIM:614158
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time OMIM:614201
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Sitosterolemia 1
Giant platelets, Impaired platelet aggregation OMIM:210250
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time OMIM:185050
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Prolonged bleeding time OMIM:188025
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Factor V Deficiency
Prolonged prothrombin time, Prolonged bleeding time OMIM:227400
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:155100
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Enlarged platelet dense granules, Absent platelet dense gra... OMIM:608233
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Prolonged bleeding time, Giant platelets ORPHA:238459
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired platelet aggregation ORPHA:79329
Thrombocytopenia With Beta-Thalassemia, X-Linked
Thrombocytopenia, Prolonged bleeding time OMIM:314050
Vertebral Hypersegmentation And Orofacial Anomalies
Six lumbar vertebrae, Supernumerary ribs OMIM:619122
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Hemivertebrae, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis OMIM:271520
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion ORPHA:324636
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Prolonged bleeding time OMIM:613679
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia, Prolonged bleeding time OMIM:187900
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae OMIM:263750
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Supernumerary ribs OMIM:193500
Ch├ędiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Abnormality of neutrophil physiology, Abnormal platelet... ORPHA:167
3Q29 Microdeletion Syndrome
Six lumbar vertebrae ORPHA:65286
Wiskott-Aldrich Syndrome
Thrombocytopenia, Prolonged bleeding time, Abnormal platelet morphology, Abnormal platelet function ORPHA:906
Noonan Syndrome
Abnormal platelet function ORPHA:648
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Leukocyte Adhesion Deficiency
Thrombocytosis, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutr... ORPHA:2968
Simpson-Golabi-Behmel Syndrome, Type 1
Six lumbar vertebrae, Cervical ribs, Vertebral segmentation defect, Scoliosis OMIM:312870

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 Stx8

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 Stx8.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Stx8tm2a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Stx8tm3a(EUCOMM)Wtsi PMC6459510
Syntaxin 8 regulates platelet dense granule secretion, aggregation, and thrombus stability. The Journal of biological chemistry (November 2014) Stx8tm2a(EUCOMM)Wtsi PMC4340400

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MGI Allele Allele Type Produced
Stx8tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Stx8tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Stx8tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Stx8tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Stx8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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