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Gene: Stx7 MGI:1858210

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Gene Summary

Name:
syntaxin 7
Synonyms:
N/A

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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 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
small thymus Stx7em1(IMPC)Rbrc HOM Early adult 0.00

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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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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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
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
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
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... ORPHA:444463
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Dent Disease 1
Hypophosphatemia OMIM:300009
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Opsismodysplasia
Hypophosphatemia OMIM:258480
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... OMIM:219800
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Raine Syndrome
Hypophosphatemia OMIM:259775
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
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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