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Gene: Stx1a MGI:109355

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Gene Summary

Name:
syntaxin 1A (brain)
Synonyms:
HPC-1

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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
decreased grip strength Stx1atm1b(EUCOMM)Hmgu HOM Early adult 3.41×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote Not available
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

10 Images

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Eye Morphology

VIP of left eye

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

VIP of right eye

15 Images

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X-ray

XRay Images Forepaw

10 Images

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Adult LacZ

LacZ Images Wholemount

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Stx1a 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 Stx1a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Williams Syndrome
Hypogonadotropic hypogonadism, Tremor, Precocious puberty, Depression, Abnormal social behavior, ... ORPHA:904
Cystic Fibrosis
Depression ORPHA:586

The table below shows human diseases predicted to be associated to Stx1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Impaired social interactions, Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Intellectual Developmental Disorder, Autosomal Recessive 6
Kinetic tremor, Torticollis, Postural tremor, Impaired social interactions OMIM:611092
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... ORPHA:309246
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Progressive Supranuclear Palsy
Impulsivity, Unsteady gait, Depression, Abnormal synaptic transmission, Dementia, Falls, Cognitiv... ORPHA:683
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Hsd10 Disease
Tremor, Short attention span, Abnormal social behavior, Choreoathetosis ORPHA:391417
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo... ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Absence of pub... ORPHA:398069
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:444002
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Diabetes mellitus, Hypothyroidism ORPHA:3198
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Dystonia, Emotional lability, Abnorm... ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Deme... ORPHA:309271
Childhood Absence Epilepsy
Abnormal social behavior, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Stiff-Person Syndrome
Depression, Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Irritability OMIM:617864
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Precocious puberty, Abnormal thalamic... ORPHA:845
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response OMIM:616881
48,Xxxy Syndrome
Tremor, Irritability, Hypogonadism, Type II diabetes mellitus, Attention deficit hyperactivity di... ORPHA:96263
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Sandhoff Disease, Infantile Form
Exaggerated startle response, Abnormal thalamic MRI signal intensity ORPHA:309155
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Tremor, De... ORPHA:478
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior, Dystonia ORPHA:309256
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Niemann-Pick Disease Type C
Axial dystonia, Dystonia, Progressive neurologic deterioration, Tremor, Depression, Dementia, Low... ORPHA:646
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Fg Syndrome Type 1
Abnormal social behavior, Small pituitary gland, Attention deficit hyperactivity disorder ORPHA:93932
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Congenital hypothyroidism OMIM:617527
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response OMIM:615574
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Depression, Pheochromocyt... ORPHA:805
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Memory impairment, Abnormal social behavior, Intention tremor ORPHA:314647
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
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Abnormality of the endocrine system, Precocious puberty, Abnormalit... ORPHA:438213
Williams Syndrome
Hypogonadotropic hypogonadism, Tremor, Precocious puberty, Depression, Abnormal social behavior, ... ORPHA:904
Mend Syndrome
Abnormal social behavior ORPHA:401973
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:619522
Norrie Disease
Diabetes mellitus, Irritability, Attention deficit hyperactivity disorder, Delayed puberty, Abnor... ORPHA:649
Cystic Fibrosis
Depression ORPHA:586

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 Stx1a

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 Stx1a.

No publications found that use IMPC mice or data for Stx1a.

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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
Stx1atm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Stx1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Stx1atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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