Gene Summary

Name:
synaptotagmin I
Synonyms:
G630098F17Rik

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
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
preweaning lethality, incomplete penetrance Syt1tm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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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 Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Legacy Phenotype Associated Images

View all 101 images

View all 19 images

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, Motor stereotypy OMIM:618218
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, 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
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism 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, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... OMIM:609734
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level, Disin... ORPHA:43
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Anorexia OMIM:619386
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Progressive Supranuclear Palsy
Dysphagia, Impulsivity, Abnormal synaptic transmission ORPHA:683
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... ORPHA:98793
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... ORPHA:177901
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Premature adrenarche, Precocious puberty, Decr... ORPHA:98754
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adrenal insufficiency... OMIM:240300
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism OMIM:264350
Immunodeficiency 54
Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:609981
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circ... OMIM:177735
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Primary adrenal insufficiency ORPHA:44
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... ORPHA:90793
Glucocorticoid Deficiency 3
Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l... OMIM:609197
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty OMIM:612079
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Polydipsia, Adrenocorticotropin d... ORPHA:95513
Wolman Disease
Adrenal calcification, Adrenal insufficiency ORPHA:75233
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Adrenal insufficiency, Adrenocorticotropin receptor defect,... OMIM:231550
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Reni Syndrome
Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology OMIM:300858
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Decreased response to growth hormone stimulation tes... OMIM:176270
Addison Disease
Thymoma, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, Increased circu... ORPHA:85138
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Adrenoleukodystrophy
Hypogonadism, Attention deficit hyperactivity disorder, Primary adrenal insufficiency OMIM:300100
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:2965
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Beta-Thalassemia Intermedia
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypoparathyroidism, Diabetes mellitus ORPHA:231222
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
Myasthenia Gravis
Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymus morphology... ORPHA:589
Xp21 Deletion Syndrome
Hypogonadotropic hypogonadism, Adrenal insufficiency, Primary adrenal insufficiency ORPHA:261476
Acute Adrenal Insufficiency
Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insufficiency, Salt cra... ORPHA:95409
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Dominant Beta-Thalassemia
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Diab... ORPHA:231226
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Anorexia, Paraganglioma ORPHA:139411
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Cholesteryl Ester Storage Disease
Adrenal calcification, Adrenal insufficiency OMIM:278000
Mirage Syndrome
Adrenal insufficiency, Adrenal hypoplasia, Hypergonadotropic hypogonadism OMIM:617053
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... ORPHA:199296
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Familial Hypoaldosteronism
Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level ORPHA:427
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena... ORPHA:199299
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Primary adrenal insufficiency, Decreased circulating cortisol level, Hyperacti... ORPHA:139396
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556037
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis, Dysphagia OMIM:615510
Beta-Thalassemia Major
Hypopituitarism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Hypoparathyroidism, Diab... ORPHA:231214
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... ORPHA:556030
Adrenomyeloneuropathy
Adrenocorticotropic hormone excess, Adrenocortical abnormality, Adrenal insufficiency, Primary ad... ORPHA:139399
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus OMIM:530000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Adrenal calcification, Absence of secondary sex c... ORPHA:289548
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Zellweger Syndrome
Primary adrenal insufficiency, Polymicrogyria ORPHA:912
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Hypot... ORPHA:2905
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Polydipsia, Abnormality of circulating cortisol level, D... ORPHA:320
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Absence of secondary sex characteristics, Increas... ORPHA:168558
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... OMIM:269200
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Pearson Syndrome
Decreased response to growth hormone stimulation test, Exocrine pancreatic insufficiency, Adrenal... ORPHA:699
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
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Central adrenal insufficie... ORPHA:488632
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Absence of secondary s... ORPHA:251510
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Central adrenal insufficiency OMIM:616007
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Increased circulating androstenedion... OMIM:202010
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency, Polymicrogyria OMIM:261515
Crimean-Congo Hemorrhagic Fever
Parotitis, Adrenal insufficiency, Orchitis, Hyperhidrosis, Anorexia, Inappropriate antidiuretic h... ORPHA:99827
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:293978
Glycerol Kinase Deficiency
Adrenal insufficiency, Chronic pancreatitis, Adrenocortical hypoplasia OMIM:307030
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Inappropriate laughter... ORPHA:363958
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Acute Liver Failure
Adrenal insufficiency, Agitation ORPHA:90062
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Cen... ORPHA:672
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency ORPHA:275761
Microphthalmia, Syndromic 2
Adrenal insufficiency, Hypothyroidism OMIM:300166
Orofaciodigital Syndrome Type 4
Primary adrenal insufficiency ORPHA:2753
Baker-Gordon Syndrome
Self-injurious behavior, Motor stereotypy OMIM:618218
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, 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 15 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Synaptotagmin-1-dependent phasic axonal dopamine release is dispensable for basic motor behaviors in mice. Nature communications (July 2023) Syt1tm1c(EUCOMM)Wtsi Syt1tm1a(EUCOMM)Wtsi PMC10336101
Synaptotagmin-1 is a Ca2+ sensor for somatodendritic dopamine release. Cell reports (December 2022) Syt1tm1c(EUCOMM)Wtsi PMC9993464
Protein composition of axonal dopamine release sites in the striatum. eLife (December 2022) Syt1tm1a(EUCOMM)Wtsi PMC9937654
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. Communications biology (November 2022) Syt1tm1a(EUCOMM)Wtsi PMC9646906
Synaptotagmin-13 orchestrates pancreatic endocrine cell egression and islet morphogenesis. Nature communications (August 2022) Syt13tm1a(EUCOMM)Hmgu PMC9352765
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
Postsynaptic synaptotagmins mediate AMPA receptor exocytosis during LTP. Nature (March 2017) Syt1tm1a(EUCOMM)Wtsi PMC5734942
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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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