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 4.10×10-05
decreased lean body mass Syt1tm1a(EUCOMM)Wtsi HET Early adult 9.57×10-05

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 Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 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
OMIM:618218
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
ORPHA:522077

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism OMIM:262700
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency, Dysphagia OMIM:619025
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism OMIM:612079
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration OMIM:145295
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... 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
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia OMIM:307030
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis OMIM:619386
Progressive Supranuclear Palsy
Dysphagia, Abnormal synaptic transmission ORPHA:683
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypogonadism OMIM:617872
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Decreased circulating aldost... OMIM:240300
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology ORPHA:43
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism OMIM:264350
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 circulating gonadotropin level, Decreased circulating aldosterone level, Precocious pub... ORPHA:90793
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... ORPHA:177904
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypogonadism OMIM:617575
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... ORPHA:177901
Panhypophysitis
Adrenocorticotropic hormone deficiency, Polydipsia, Decreased serum testosterone concentration, R... ORPHA:95513
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... ORPHA:361
Flynn-Aird Syndrome
Primary adrenal insufficiency, Abnormality of the thyroid gland, Type II diabetes mellitus ORPHA:2047
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Prader-Willi-Like Syndrome
Perisylvian polymicrogyria, Abnormality of the endocrine system, Precocious puberty, Decreased ci... ORPHA:398073
Prolactinoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... ORPHA:2965
Prader-Willi Syndrome
Perisylvian polymicrogyria, Precocious puberty, Central adrenal insufficiency, Small pituitary gl... ORPHA:739
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto thyroiditis,... ORPHA:589
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism ORPHA:300298
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... ORPHA:54595
Addison Disease
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti... ORPHA:85138
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency ORPHA:261476
Beta-Thalassemia Intermedia
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:231222
Prader-Willi Syndrome
Adrenal insufficiency, Precocious puberty, Type II diabetes mellitus, Hyperinsulinemia, Decreased... OMIM:176270
Distal Monosomy 13Q
Primary adrenal insufficiency ORPHA:1590
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Tsh-Secreting Pituitary Adenoma
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... ORPHA:91347
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Hy... ORPHA:231226
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Increased circulating renin level ORPHA:427
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Adrenal calcification OMIM:278000
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Decreased circulating cortisol level, Increased circulat... ORPHA:95409
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... ORPHA:199296
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556037
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Adrenomyeloneuropathy
Adrenal insufficiency, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenoc... ORPHA:139399
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556030
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Hy... ORPHA:231214
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus OMIM:530000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:289548
Alacrima, Achalasia, And Mental Retardation Syndrome
Adrenal insufficiency, Dysphagia, Hypohidrosis OMIM:615510
Adrenoleukodystrophy
Primary adrenal insufficiency, Hypogonadism OMIM:300100
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Zellweger Syndrome
Primary adrenal insufficiency, Polymicrogyria ORPHA:912
Poems Syndrome
Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... ORPHA:2905
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Hypothyro... OMIM:269200
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Primary adrenal insufficiency, Dysphagia, Male hypogonadism ORPHA:139396
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal insufficiency OMIM:617053
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:168558
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Polydipsia, Abnormali... ORPHA:320
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... ORPHA:199299
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity ORPHA:139411
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618114
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Decreased response ... ORPHA:699
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropi... ORPHA:251510
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... ORPHA:293978
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Central adrenal insufficie... ORPHA:488632
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:218030
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:177200
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Decreased circulating aldosterone level, Adrenocorticotropi... OMIM:231550
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... OMIM:202010
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Central adrenal insufficiency OMIM:616007
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... ORPHA:90794
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency, Polymicrogyria OMIM:261515
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Orchitis, Inappropriate antidiuretic hormone secretion, Hyperhidrosis, Acu... ORPHA:99827
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Hypothyroidism, Primar... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hypothyroidism, Primar... ORPHA:363958
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency ORPHA:275761
Microphthalmia, Syndromic 2
Adrenal insufficiency, Hypothyroidism OMIM:300166
Pallister-Hall Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Abnormal prolactin level, Central adr... ORPHA:672
Acute Liver Failure
Adrenal insufficiency ORPHA:90062
Orofaciodigital Syndrome Type 4
Primary adrenal insufficiency ORPHA:2753
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
ORPHA:522077
Baker-Gordon Syndrome
OMIM:618218

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 10 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. Communications biology (November 2022) Syt1tm1a(EUCOMM)Wtsi PMC9646906
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 <