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
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 Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 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
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency OMIM:262700
Combined Oxidative Phosphorylation Deficiency 50
Dysphagia, Adrenal insufficiency OMIM:619025
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Pituita... ORPHA:71526
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Decreased growth hormone responses to grow... OMIM:609734
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Aggressive behavior, Hyperactivity, Disinhibition, Attention d... ORPHA:43
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Adrenal insufficiency OMIM:619386
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Precocious puberty, Absence of pubertal development, Primary... OMIM:300200
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... 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
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Progressive Supranuclear Palsy
Abnormal synaptic transmission, Dysphagia, Impulsivity ORPHA:683
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:613743
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal insufficiency, Hy... OMIM:617872
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Delayed puberty, Decreased circulating inhi... ORPHA:98793
Familial Glucocorticoid Deficiency
Anorexia, Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidism, ... ORPHA:361
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obsessive-compulsive trait, Abnormal temper tantrums, Delayed puberty, Decreased circulating inhi... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obsessive-compulsive trait, Abnormal temper tantrums, Delayed puberty, Decreased circulating inhi... ORPHA:177901
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Abnormal temper tantrums, Decreased circulating inhibin B concentration, Decreas... ORPHA:98754
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Hypothyroidism, Primary adrenal insufficiency, Decreased... OMIM:240300
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism OMIM:264350
Immunodeficiency 54
Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:609981
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Pseu... OMIM:177735
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Abnormality of neuronal migration ORPHA:44
Hypoadrenocorticism, Familial
Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Increas... ORPHA:90793
Glucocorticoid Deficiency 3
Increased circulating ACTH level, Abnormal circulating renin, Decreased circulating cortisol leve... OMIM:609197
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland OMIM:612079
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Panhypophysitis
Polydipsia, Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hy... ORPHA:95513
Wolman Disease
Adrenal calcification, Adrenal insufficiency ORPHA:75233
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... OMIM:231550
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Reni Syndrome
Hypothyroidism, Hypogonadism, Adrenal insufficiency OMIM:617575
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology OMIM:300858
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Ane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Reduced circulating prola... ORPHA:157954
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Polypha... OMIM:176270
Addison Disease
Anorexia, Delayed puberty, Hypoparathyroidism, Adrenal hypoplasia, Androgen insufficiency, Increa... ORPHA:85138
Adenohypophysitis
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Abnormal size of pituitary... ORPHA:95512
Adrenoleukodystrophy
Attention deficit hyperactivity disorder, Primary adrenal insufficiency, Hypogonadism OMIM:300100
Prolactinoma
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy... ORPHA:2965
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hypothyroidism, Hypogonadism, Diabetes mellitus, Adrenal insufficiency ORPHA:231222
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Myasthenia Gravis
Hashimoto thyroiditis, Primary adrenal insufficiency, Hyperthyroidism, Dysphagia, Abnormal thymus... ORPHA:589
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency ORPHA:261476
Acute Adrenal Insufficiency
Anorexia, Delayed puberty, Adrenal hypoplasia, Androgen insufficiency, Increased circulating reni... ORPHA:95409
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Dominant Beta-Thalassemia
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... ORPHA:231226
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Pseudohypoaldosteronism OMIM:614492
Carney Triad
Anorexia, Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity, Paraganglioma ORPHA:139411
Cholesteryl Ester Storage Disease
Adrenal calcification, Adrenal insufficiency OMIM:278000
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Adrenal insufficiency OMIM:617053
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal i... ORPHA:199296
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,... ORPHA:91347
Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Adrenal insufficiency ORPHA:427
Late-Onset Isolated Acth Deficiency
Anorexia, Hypoparathyroidism, Decreased circulating ACTH concentration, Adrenocorticotropic hormo... ORPHA:199299
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Abnormal re... OMIM:615577
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Decr... OMIM:610600
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Elevated serum 11-deo... ORPHA:556037
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Primary adrenal insufficiency, Decreased circulating cortisol level, Dysphagia, Ma... ORPHA:139396
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hypohidrosis, Dysphagia, Adrenal insufficiency OMIM:615510
Beta-Thalassemia Major
Delayed puberty, Hypoparathyroidism, Hypothyroidism, Hypopituitarism, Diabetes mellitus, Adrenal ... ORPHA:231214
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Elevated serum 11-deo... ORPHA:556030
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenocorticotropic hormone excess, Ad... ORPHA:139399
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:289548
Kearns-Sayre Syndrome
Primary adrenal insufficiency, Diabetes mellitus, Hypoparathyroidism OMIM:530000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco... ORPHA:90791
Zellweger Syndrome
Polymicrogyria, Primary adrenal insufficiency ORPHA:912
Poems Syndrome
Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insufficiency, Hypogonadism,... ORPHA:2905
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ... OMIM:201810
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating renin level, Decreased circulating aldosterone level, Abnormali... ORPHA:320
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad... ORPHA:168558
Autoimmune Polyendocrine Syndrome, Type Ii
Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Hyperthyroidism... OMIM:269200
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Corticosterone Methyloxidase Type I Deficiency
Increased circulating renin level, Decreased circulating aldosterone level OMIM:203400
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hypothyroidism, Exocri... ORPHA:699
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618126
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:177200
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Central adrenal insufficiency, Decreased response to growth hormone stimulation t... ORPHA:488632
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Increased circulating gonadotropin lev... ORPHA:251510
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:218030
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
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating ACTH level, Increased circulating androstenedione concentration, Premature ... ORPHA:90794
D-Bifunctional Protein Deficiency
Polymicrogyria, Primary adrenal insufficiency OMIM:261515
Crimean-Congo Hemorrhagic Fever
Anorexia, Agitation, Parotitis, Inappropriate antidiuretic hormone secretion, Acute pancreatitis,... ORPHA:99827
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Chronic pancreatitis, Adrenal insufficiency OMIM:307030
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Hypothyroidism, Precocious puberty, Primar... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypothyroidism, Precocious puberty, Primar... ORPHA:363958
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Decreased c... OMIM:201750
Acute Liver Failure
Agitation, Adrenal insufficiency ORPHA:90062
Pallister-Hall Syndrome
Pituitary hypothyroidism, Adrenal hypoplasia, Thyroid hypoplasia, Panhypopituitarism, Abnormal pr... ORPHA:672
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, 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