Gene Summary

Name:
syntaxin 7
Synonyms:
N/A

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
small thymus Stx7em1(IMPC)Rbrc HOM Early adult 0.00
abnormal circulating phosphate level Stx7em1(IMPC)Rbrc HOM Late adult 4.10×10-05
abnormal thymus morphology Stx7em1(IMPC)Rbrc HOM Early adult 0.00
decreased large unstained cell number Stx7em1(IMPC)Rbrc HOM   Early adult 3.99×10-05

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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

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

2 Images

Human diseases caused by Stx7 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 Stx7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... ORPHA:157215
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Dent Disease 1
Hypophosphatemia OMIM:300009
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Opsismodysplasia
Hypophosphatemia OMIM:258480
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Cystinosis, Nephropathic
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... OMIM:219800
Raine Syndrome
Hypophosphatemia OMIM:259775
Pearson Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936

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 Stx7

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 Stx7.

No publications found that use IMPC mice or data for Stx7.

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MGI Allele Allele Type Produced
Stx7em1(IMPC)Rbrc Indel Mice
Stx7tm258159(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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