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Gene: Syt7 MGI:1859545

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Gene Summary

Name:
synaptotagmin VII
Synonyms:
B230112P13Rik

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
decreased thigmotaxis Syt7em2(IMPC)H HOM   Early adult 7.97×10-05
decreased locomotor activity Syt7em2(IMPC)H HOM   Early adult 1.01×10-06
decreased exploration in new environment Syt7em2(IMPC)H HOM   Early adult 8.47×10-05
abnormal behavior Syt7em2(IMPC)H HOM   Early adult 7.97×10-05
decreased circulating phosphate level Syt7em2(IMPC)H HOM Early adult 4.36×10-05

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Syt7 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 Syt7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Inclusion Body Myositis
Skeletal muscle atrophy, Autoimmunity, Abnormal muscle fiber morphology, Quadriceps muscle weakne... ORPHA:611
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Myocarditis, Autoimmune antibody ... ORPHA:206569
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Myositis
Myositis OMIM:160750
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid fa... OMIM:615934
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Flexion contracture, Panniculitis OMIM:619183
Focal Myositis
Myositis ORPHA:48918
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Eosinophilic Fasciitis
Arthritis, Fasciitis, Muscular edema, Myositis ORPHA:3165
Pediatric Systemic Lupus Erythematosus
Myositis, Antiphospholipid antibody positivity, Skin rash, Discoid lupus rash, Antinuclear antibo... ORPHA:93552
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Myasthenia Gravis
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... ORPHA:589
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Pso... ORPHA:37042
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Thymoma
Myositis, Glomerulonephritis, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulce... ORPHA:99867
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Antisynthetase Syndrome
Myositis, Skin rash, Autoimmunity, Myocarditis, Keratoconjunctivitis sicca ORPHA:81
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas OMIM:142680
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Graft Versus Host Disease
Skeletal muscle atrophy, Fasciitis, Myositis, Dupuytren contracture, Maculopapular exanthema, Pne... ORPHA:39812
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Idiopathic Camptocormia
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... ORPHA:1320
Dent Disease 2
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia OMIM:300555
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Myocarditis, Endoc... ORPHA:183
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Myocarditis, Arthritis, Keratoconjunc... ORPHA:809
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Abnorm... ORPHA:99845
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Hepatitis, Systemic lupus... ORPHA:444463
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Whipple Disease
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Erectile dysfunction, Infectious encepha... ORPHA:3452
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Linear Verrucous Nevus Syndrome
Mental deterioration, Hypophosphatemia ORPHA:2611
Alopecia Areata 1
Autoimmunity OMIM:104000
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Cystinosis
Hypokalemia, Gait disturbance, Hypophosphatemia, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... ORPHA:228119
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Juvenile Dermatomyositis
Calcinosis, Myositis, Pericarditis, Skin rash, Autoimmunity, Arthritis ORPHA:93672
Autoimmune Hypoparathyroidism
Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoca... ORPHA:36913
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... ORPHA:2552
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concen... ORPHA:157215
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... ORPHA:90283
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:411593
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Eosinophilopenia
Autoimmunity, Allergic rhinitis OMIM:131430
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... ORPHA:258
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct... ORPHA:32960
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Difficulty walking, Hypophosphatemia OMIM:277440
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression OMIM:600740
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Testicular teratoma ORPHA:764
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho... OMIM:241530
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Arthritis, Anti-dsDNA antibody positivity... ORPHA:567544
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody posi... ORPHA:79078
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Brachydactylous Dwarfism, Mseleni Type
Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth... ORPHA:2619
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Autoimmunity, Minimal change glomerulonephritis OMIM:617006
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... ORPHA:163525
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Autoimmunity ORPHA:163703
Hyperparathyroidism, Neonatal Severe
Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia OMIM:239200
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash OMIM:609939
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Systemic Lupus Erythematosus
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... OMIM:152700
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Acquired Partial Lipodystrophy
Myopathy, Autoimmunity ORPHA:79087
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Arthritis, Panniculitis ORPHA:51
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal fear-induced behavior, Abnormal circulating porph... ORPHA:100924
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Linear Iga Dermatosis
Inflammation of the large intestine, Autoimmunity ORPHA:46488
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... OMIM:619743
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thyroiditis, Sy... OMIM:619375
Hereditary Fructose Intolerance
Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypokalemia, Cognitive impairment, Hypophosphatemia, Polydipsia ORPHA:411629
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Acquired Ichthyosis
Recurrent skin infections, Autoimmunity ORPHA:454
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Arthritis, ... ORPHA:229717
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cognitive impairment OMIM:612462
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Tetrasomy 9P
Myositis, Pericarditis, Cryptorchidism, Oligozoospermia, Systemic lupus erythematosus, Arthritis,... ORPHA:3310
Immunodeficiency, Common Variable, 2
Autoimmunity, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent... OMIM:240500
Pseudohypoparathyroidism Type 1B
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94089
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Autoimmune th... OMIM:615559
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis ORPHA:397596
Bullous Pemphigoid
Psoriasiform dermatitis, Autoimmunity, Eczema ORPHA:703
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Interstitial pneumonitis, Autoimmunity, Aut... ORPHA:231154
Immunoglobulin A Deficiency 1
Autoimmunity OMIM:137100
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, J... ORPHA:275
Subcorneal Pustular Dermatosis
Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:48377
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Systemic lupus erythematosus, Proximal amyotr... OMIM:159400
Cystinosis, Nephropathic
Hyponatremia, Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Hypomagnesemia, Re... OMIM:219800
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia ORPHA:249
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability ORPHA:428
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus ORPHA:90036
Overlap Myositis
Proximal muscle weakness in upper limbs, Autoimmunity, Perifascicular muscle fiber atrophy, Antin... ORPHA:206572
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Juvenile rheumatoid arthritis ORPHA:85414
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic interstitial pneum... OMIM:618495
Dent Disease 1
Hypophosphatemia OMIM:300009
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... ORPHA:94093
Pseudohypoparathyroidism Type 1C
Calcinosis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te... ORPHA:79444
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Autoimmunity ORPHA:220402
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu... ORPHA:85410
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Depression, Hypophosphatemia, Self-injurious behavior, Hypokalemia, ... ORPHA:534
Opsismodysplasia
Hypophosphatemia OMIM:258480
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Hepatitis, Thyroiditis, N... ORPHA:228426
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Recurre... ORPHA:47
Pearson Syndrome
Ataxia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia ORPHA:699
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... ORPHA:331235
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy OMIM:229600
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... ORPHA:3337
Pseudohypoparathyroidism Type 1A
Calcinosis, Confusion, Depression, Choreoathetosis, Irritability, Hyperphosphatemia, Hypocalcemia... ORPHA:79443
Immunodeficiency 7
Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmunity, Chronic oral candidiasis OMIM:615387
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Anti-Glomerular Basement Membrane Disease
Arthritis, Autoimmunity ORPHA:375
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Recurrent pneumonia, Autoimmunity, Eczema OMIM:617780
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu... ORPHA:572
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiectasis, Autoimmunity, Pneumonia ORPHA:1303
Raine Syndrome
Hypophosphatemia OMIM:259775
Igg4-Related Aortitis
Antinuclear antibody positivity, Increased inflammatory response, Cytoplasmic antineutrophil anti... ORPHA:449400
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Autoimmunity, C3 nephritic factor positivity ORPHA:329918
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Stiff-Person Syndrome
Proximal limb muscle stiffness, Autoimmunity, Asymmetric limb muscle stiffness, Axial muscle stif... OMIM:184850
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Recurrent pneumonia, Synovitis, Arthritis, R... ORPHA:47612
Myasthenia Gravis
Limb muscle weakness, Autoimmunity, Facial palsy OMIM:254200
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity ORPHA:704
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Dermatitis Herpetiformis
Autoimmunity, Eczema ORPHA:1656
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Myopathy, Autoimmunity, Pneumonia ORPHA:169090
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Impotence, Autoimmunity, Oligomenorrhea ORPHA:91354
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Autoimmunity, Chronic mucocutaneous candidiasis, Inflammation of the large intestine, Rec... ORPHA:98813
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha... ORPHA:466650
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Rheumatoid art... ORPHA:100026
Type 1 Diabetes Mellitus
Autoimmunity OMIM:222100
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimm... ORPHA:227990
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... ORPHA:1855
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... ORPHA:90060
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Unclassified Myelodysplastic Syndrome
Autoimmunity ORPHA:98827
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Myopat... ORPHA:90289
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Autoimmunity ORPHA:33577
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Antiphospholipid antibody positivity, Hypergonadotropic hypogonadism, Autoimm... ORPHA:227982
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Flexion contracture, Autoimmunity, Dyspareunia ORPHA:220393
Macrophage Activation Syndrome
Increased inflammatory response, Autoimmunity, Hepatitis, Systemic lupus erythematosus, Juvenile ... ORPHA:158061
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Cernunnos-Xlf Deficiency
Autoimmunity ORPHA:169079
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Autoimmune thrombocytopenia OMIM:614470
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Autoimmunity, Uveitis, Arthritis, Conjunctivitis, Inflammatory abnormali... ORPHA:36412
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Polymyositis
Arthritis, Pericarditis, Autoimmunity, Abnormal muscle fiber morphology ORPHA:732
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Adiposis Dolorosa
Arthritis, Recurrent skin infections, Autoimmunity ORPHA:36397
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Autoimmunity OMIM:618398
Extracranial Carotid Artery Aneurysm
Upper limb muscle weakness, Autoimmunity, Arteritis ORPHA:494424
Lymphoproliferative Syndrome 1
Stomatitis, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia OMIM:613011
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... ORPHA:443811
Omenn Syndrome
Autoimmunity, Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Gastritis, Glomerulonephritis, Rheu... ORPHA:3261
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... ORPHA:79128
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Acute pancreatitis, Autoimmunity, Myopathy, Panniculitis ORPHA:79086
New-Onset Refractory Status Epilepticus
Infectious encephalitis, Autoimmunity ORPHA:363558
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Autoimmunity ORPHA:293964
Isolated Osteopoikilosis
Discoid lupus rash, Autoimmunity ORPHA:166119
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus ORPHA:90033
Igg4-Related Thyroid Disease
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Thyroiditis, Sclerosing cholangitis, A... ORPHA:64744
Livedoid Vasculopathy
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Autoimmunity,... ORPHA:542643
Pediatric-Onset Graves Disease
Episcleritis, Autoimmunity, Keratitis, Anti-thyroid peroxidase antibody positivity, Neutropenia i... ORPHA:525731
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Atopic dermatitis ORPHA:2902
Hemorrhagic Fever-Renal Syndrome
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation ORPHA:340
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... OMIM:607944
Autoimmune Polyendocrinopathy Type 1
Autoimmunity, Chronic mucocutaneous candidiasis ORPHA:3453
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Cryptococcosis
Osteomyelitis, Pneumonia, Autoimmunity, Peritonitis, Systemic lupus erythematosus, Limb muscle we... ORPHA:1546
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Autoimmunity, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral ca... ORPHA:83471
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia ORPHA:760
Immunodeficiency 22
Pericarditis, Panniculitis, Autoimmunity, Chronic oral candidiasis OMIM:615758
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Autoimmunity, Hashimoto thyroiditis, Camptodactyly OMIM:613385
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Autoimmune hemolytic anemia, Skin rash, Autoimmunity ORPHA:331206
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Enterocolitis, Interface hepa... OMIM:243150
Intrahepatic Cholestasis Of Pregnancy
Autoimmunity, Skin rash, Cholecystitis ORPHA:69665
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Cold Agglutinin Disease
Autoimmunity ORPHA:56425
Immunodeficiency 36 With Lymphoproliferation
Autoimmunity, Bronchiectasis OMIM:616005
Encephalitis Lethargica
Upper limb muscle weakness, Autoimmunity ORPHA:83600
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity... ORPHA:93284
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Myocarditis, Autoimmunity ORPHA:563
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent otitis media, Autoimmunity ORPHA:449291
Ehlers-Danlos Syndrome, Periodontal Type, 1
Periodontitis, Autoimmunity OMIM:130080
Late-Onset Isolated Acth Deficiency
Hepatitis, Autoimmunity, Hashimoto thyroiditis, Premature ovarian insufficiency ORPHA:199299
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Autoimmunity, Abnormality of the menstrual cycle, Keratitis, Arthritis, Inflam... ORPHA:906
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Inflammatory a... ORPHA:900
Insulin-Resistance Syndrome Type B
Skin rash, Autoimmunity, Pneumonia, Antinuclear antibody positivity, Osteoarthritis, Systemic lup... ORPHA:2298
Primary Biliary Cholangitis
Antinuclear antibody positivity, Autoimmunity, Hepatitis, Gastrointestinal inflammation ORPHA:186
Familial Glucocorticoid Deficiency
Autoimmunity, Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Leydig cell neoplasia ORPHA:361
Acute Transverse Myelitis
Autoimmunity, Systemic lupus erythematosus, Upper limb muscle weakness, Abnormal libido, Distal l... ORPHA:139417
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hashimoto thyroiditis ORPHA:436252
Primary Sclerosing Cholangitis
Autoimmunity, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Generalized amyotrophy, Pancre... ORPHA:171
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Inflammation of the large inte... ORPHA:70591
Dermatomyositis
Pericarditis, Autoimmunity, Myocarditis, Inflammatory myopathy, Arthritis ORPHA:221
Angioedema, Hereditary, 1
Autoimmunity OMIM:106100
Addison Disease
Primary testicular failure, Premature ovarian insufficiency, Autoimmunity, Decreased female libid... ORPHA:85138
Igg4-Related Submandibular Gland Disease
Autoimmunity, Prostatitis, Cholangitis ORPHA:449432

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 Syt7

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 Syt7.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Synaptotagmin 7 is targeted to the axonal plasma membrane through γ-secretase processing to promote synaptic vesicle docking in mouse hippocampal neurons. eLife (September 2021) Syt7em3(IMPC)H PMC8452306

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MGI Allele Allele Type Produced
Syt7em2(IMPC)H Exon Deletion Mice
Syt7em3(IMPC)H Exon Deletion Mice
Syt7em1H Insertion Mice
Syt7tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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