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Gene: Syt1 MGI:99667

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Gene Summary

Name:
synaptotagmin I
Synonyms:
G630098F17Rik

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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
preweaning lethality, incomplete penetrance Syt1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased bone mineral content Syt1tm1a(EUCOMM)Wtsi HET Early adult 3.61×10-05
decreased lean body mass Syt1tm1a(EUCOMM)Wtsi HET Early adult 9.57×10-05

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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

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Legacy Phenotype Associated Images
Syt1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Syt1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Syt1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Syt1tm1a(EUCOMM)Wtsi
WT, Female, WTSI
Syt1tm1a(EUCOMM)Wtsi
WT, Female, WTSI

View all 101 images

Syt1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Syt1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Syt1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Syt1tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Syt1tm1a(EUCOMM)Wtsi
WT, Male, WTSI

View all 19 images

Syt1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Syt1 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 Syt1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting ORPHA:522077

The table below shows human diseases predicted to be associated to Syt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Dysphagia OMIM:619025
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Adrenal insufficiency, Disi... ORPHA:43
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Anorexia OMIM:619386
Progressive Supranuclear Palsy
Impulsivity, Dysphagia, Abnormal synaptic transmission ORPHA:683
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:264350
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... OMIM:240300
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... OMIM:177735
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Abnormality of neuronal migration ORPHA:44
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... ORPHA:90793
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Panhypophysitis
Decreased circulating cortisol level, Polydipsia, Reduced circulating prolactin concentration, Ad... ORPHA:95513
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... OMIM:231550
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus ORPHA:2047
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Reni Syndrome
Hypogonadism, Hypothyroidism, Adrenal insufficiency OMIM:617575
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Adrenal calcification, Ad... ORPHA:85138
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism ORPHA:231222
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Abnormal thymus morphology, Dysphagia, Hashimoto ... ORPHA:589
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency, Attention deficit hyperactivity disorder OMIM:300100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Salt craving, Adrenal hypoplasia, Anorexia, Primary adrenal... ORPHA:95409
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency ORPHA:261476
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Carney Triad
Anorexia, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity ORPHA:139411
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231226
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Familial Hypoaldosteronism
Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level ORPHA:427
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Cholesteryl Ester Storage Disease
Adrenal insufficiency, Adrenal calcification OMIM:278000
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Dysphagia, Hypohidrosis OMIM:615510
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Adrenal insufficiency OMIM:617053
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Decreased circulating cortisol level, Primary adrenal insufficiency, Dysphagia, Ma... ORPHA:139396
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Anorexia, Decreased circulating ACTH co... ORPHA:199299
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... ORPHA:199296
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... ORPHA:139399
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Adrenal insufficiency, Delayed puberty, Hypopituitarism, H... ORPHA:231214
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency OMIM:530000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... OMIM:201810
Zellweger Syndrome
Polymicrogyria, Primary adrenal insufficiency ORPHA:912
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, D... ORPHA:320
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi... ORPHA:2905
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Liddle Syndrome 2
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... ORPHA:227982
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Adr... ORPHA:699
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu... ORPHA:227990
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... ORPHA:251510
Tbck-Related Intellectual Disability Syndrome
Central adrenal insufficiency, Hyperthyroidism, Hypothyroidism, Decreased response to growth horm... ORPHA:488632
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test OMIM:616007
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
D-Bifunctional Protein Deficiency
Polymicrogyria, Primary adrenal insufficiency OMIM:261515
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Adrenal insufficiency, Chronic pancreatitis OMIM:307030
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Anorexia, Orchitis, Hyperhidrosis, Adrenal insufficiency, Agitation, Inapprop... ORPHA:99827
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... ORPHA:363958
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Pallister-Hall Syndrome
Adrenal hypoplasia, Precocious puberty, Adrenocorticotropic hormone deficiency, Paroxysmal bursts... ORPHA:672
Acute Liver Failure
Agitation, Adrenal insufficiency ORPHA:90062
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Microphthalmia, Syndromic 2
Hypothyroidism, Adrenal insufficiency OMIM:300166
Orofaciodigital Syndrome Type 4
Primary adrenal insufficiency ORPHA:2753
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting ORPHA:522077

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 Syt1

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 Syt1.

There are 9 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Synaptotagmin-1 is the Ca2+ sensor for fast striatal dopamine release. eLife (June 2020) Syt1tm1a(EUCOMM)Wtsi PMC7319770
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Syt1tm1.2(IMPC)Wtsi Syt1tm1a(EUCOMM)Wtsi PMC7263671
Synaptotagmin 17 controls neurite outgrowth and synaptic physiology via distinct cellular pathways. Nature communications (August 2019) Syt17tm1a(KOMP)Wtsi PMC6684635
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Syt1tm1a(EUCOMM)Wtsi Syt16tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Syt1tm1a(EUCOMM)Wtsi Syt16tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Syt1tm1a(EUCOMM)Wtsi PMC5827107
Synaptotagmin2 (Syt2) Drives Fast Release Redundantly with Syt1 at the Output Synapses of Parvalbumin-Expressing Inhibitory Neurons. The Journal of neuroscience : the official journal of the Society for Neuroscience (March 2017) Syt1tm1c(EUCOMM)Wtsi Syt1tm1a(EUCOMM)Wtsi 28363983
A Synaptotagmin Isoform Switch during the Development of an Identified CNS Synapse. Neuron (May 2016) Syt1tm1a(EUCOMM)Wtsi 27210552
Architecture of the synaptotagmin-SNARE machinery for neuronal exocytosis. Nature (August 2015) Syt1tm1a(EUCOMM)Wtsi PMC4607316

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MGI Allele Allele Type Produced
Syt1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Syt1tm1(IMPC)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Syt1tm1.2(IMPC)Wtsi Reporter-tagged deletion allele (post Flp, with no reporter and selection cassette) Mice
Syt1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Syt1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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