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Gene: Shtn1 MGI:1918903

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Gene Summary

Name:
shootin 1
Synonyms:
shootin1,  4930506M07Rik

Order Alleles

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 lean body mass Shtn1em1(IMPC)J HOM Early adult 3.41×10-05
hyperactivity Shtn1em1(IMPC)J HOM Early adult 8.03×10-05

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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Shtn1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Shtn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizencephaly
Agenesis of corpus callosum, Schizencephaly, Cerebral cortical atrophy OMIM:269160
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Chudley-Mccullough Syndrome
Polymicrogyria, Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosu... OMIM:604213
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Agenesis of corpus callosum, Hydrocephalus OMIM:617542
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, ... OMIM:600638
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Abnormal cerebral white matter morphology, Dysplastic ... ORPHA:500166
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Thin corpus callosum, Fusion of the caudate and putamen, Simplified gyral... OMIM:614039
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Agenesis of... ORPHA:101029
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:171703
Glycosylphosphatidylinositol Biosynthesis Defect 17
Primary microcephaly, Dysplastic corpus callosum OMIM:618010
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Thin corpus callosum, Pachygyria ORPHA:572013
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Polymicrogyria, Partial agenesis of the corpus callosum, Frontoparietal cortical dysplasia, Pachy... OMIM:610031
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum ORPHA:250972
Lissencephaly 4
Colpocephaly, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus c... OMIM:614019
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Microcephaly 5, Primary, Autosomal Recessive
Simplified gyral pattern, Small cerebral cortex, Microcephaly, Cortical dysplasia, Hypoplasia of ... OMIM:608716
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum OMIM:619501
Lissencephaly 9 With Complex Brainstem Malformation
Pachygyria, Microcephaly, Lissencephaly, Hypoplastic anterior commissure, Hypoplasia of the corpu... OMIM:618325
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Myasthenic Syndrome, Congenital, 23, Presynaptic
Agenesis of corpus callosum OMIM:618197
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Lissencephaly, X-Linked, 1
Agyria, Lissencephaly, Agenesis of corpus callosum, Pachygyria OMIM:300067
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Primary microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Dysgenesis o... OMIM:615771
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Lissencephaly 3
Polymicrogyria, Pachygyria, Microcephaly, Agyria, Lissencephaly, Hypoplasia of the corpus callosu... OMIM:611603
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Agenesis of the anterior commissure, Type II lissencephaly, Polymicrogyria, Primary microcephaly,... ORPHA:300570
Lissencephaly Due To Tuba1A Mutation
Polymicrogyria, Partial agenesis of the corpus callosum, Perisylvian polymicrogyria, Hypoplastic ... ORPHA:171680
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Agenesis of corpus callosum, Cerebral atrophy, Partial agenesis of the corpus callosum ORPHA:85179
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Simplified gyral pattern, Absent septum pellucidum, Microcephaly, Hypoplasia of... OMIM:618492
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Polymicrogyria Due To Tubb2B Mutation
Polymicrogyria, Abnormal caudate nucleus morphology, Abnormal corpus callosum morphology, Schizen... ORPHA:300573
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Thin corpus callosum OMIM:620200
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Cerebral atrophy, Abnormal basal ganglia morphology, Periven... ORPHA:255182
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Band Heterotopia
Polymicrogyria, Hydrocephalus, Lateral ventricle dilatation, Agenesis of corpus callosum, Subcort... OMIM:600348
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:619466
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Corticospinal tract hypoplasia, Age... OMIM:307000
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Masa Syndrome
Agenesis of corpus callosum, Microcephaly, Hydrocephalus OMIM:303350
Mucolipidosis Iv
Microcephaly, Cerebral dysmyelination, Dysplastic corpus callosum OMIM:252650
Craniotelencephalic Dysplasia
Frontal encephalocele, Absent septum pellucidum, Lissencephaly, Arrhinencephaly, Agenesis of corp... OMIM:218670
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum ORPHA:238722
Craniotelencephalic Dysplasia
Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Lissencephaly, Microcephaly, Arrhine... ORPHA:1528
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Dysplastic corpus callosum, Microcephaly, Lissencephaly, Agenesis of corpus callosum OMIM:614833
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Dworschak-Punetha Neurodevelopmental Syndrome
Colpocephaly, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:619955
Corpus Callosum, Partial Agenesis Of, X-Linked
Hypoplasia of the corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Hydroce... OMIM:304100
Holoprosencephaly 11
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly OMIM:614226
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pachygyria ORPHA:2512
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Dysplastic corpus callosum, Periventricular leukomalacia, Abnormal periventricu... OMIM:616900
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Microcephaly, Agyria, Lissencephaly, Agenesis of corpus callosum OMIM:616342
Microcephaly 3, Primary, Autosomal Recessive
Primary microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small ce... OMIM:604804
Delpire-Mcneill Syndrome
Agenesis of corpus callosum, Cortical dysplasia OMIM:619083
Microcephaly 10, Primary, Autosomal Recessive
Primary microcephaly, Cerebral atrophy, Simplified gyral pattern, Reduced cerebral white matter v... OMIM:615095
Combined Oxidative Phosphorylation Deficiency 54
Periventricular white matter hyperintensities, Secondary microcephaly, Dysplastic corpus callosum OMIM:619737
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Even-Plus Syndrome
Agenesis of corpus callosum, Dysplastic corpus callosum OMIM:616854
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Corticospinal tract hypoplasia, Pachygyria, Short corpus callosum, Periven... ORPHA:255138
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Microcephaly, Dysplastic corpus callosum OMIM:620001
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Hypoplasia of the corpus callosum, Progressive microcephaly, Dysplast... ORPHA:2524
Microphthalmia, Syndromic 11
Agenesis of corpus callosum OMIM:614402
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Dysplastic corpus callosum OMIM:604273
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Progressive microcephaly, Lateral ventricle dilatation, Dysplastic corpus callosum, Multifocal hy... ORPHA:488627
Septooptic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Agenesis of corpus callosum, Microcephaly, Lateral ventricle dilatation OMIM:618736
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly ORPHA:1496
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum OMIM:618810
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly OMIM:616975
Kapur-Toriello Syndrome
Polymicrogyria, Pachygyria, Dysplastic corpus callosum ORPHA:2328
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Colpocephaly, Polymicrogyria, Cerebral atrophy, Schizencephaly, Hydrocephalus, Reduced cerebral w... OMIM:620156
Microcephaly 26, Primary, Autosomal Dominant
Simplified gyral pattern, Dysplastic corpus callosum, Pachygyria, Microcephaly, Hypoplasia of the... OMIM:619179
Oculoskeletodental Syndrome
Focal white matter lesions, Dysplastic corpus callosum ORPHA:557003
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Agenesis of corpus callosum OMIM:207950
Autosomal Recessive Cutis Laxa Type 2A
Primary microcephaly, Secondary microcephaly, Dysplastic corpus callosum, Pachygyria, Thick cereb... ORPHA:357058
Microcephaly 20, Primary, Autosomal Recessive
Microlissencephaly, Simplified gyral pattern, Small cerebral cortex, Microcephaly, Arrhinencephal... OMIM:617914
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Leukoencephalopathy, Dysplastic c... OMIM:614924
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, M... OMIM:617281
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Dysplastic corpus ca... OMIM:619103
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum OMIM:618569
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Hyperactivity, Obesity OMIM:301013
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Periventricular cysts, Lateral ventricle dilatation, Dysplastic corpus callosum, Thick corpus cal... ORPHA:544488
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Dysplastic corpus c... ORPHA:314679
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Histidinemia
Hyperactivity ORPHA:2157
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Primary microcephaly, Abnormal corpus callosum morphology, Secondary microcephaly... ORPHA:261552
Genitourinary And/Or Brain Malformation Syndrome
Colpocephaly, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Holoprosencephaly... OMIM:618820
Isolated Exencephaly
Holoprosencephaly, Agenesis of corpus callosum ORPHA:563612
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Cere... OMIM:151050
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Agitation, Hyperactivity, Weight loss ORPHA:424
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Weight loss ORPHA:99819
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Zttk Syndrome
Periventricular leukomalacia, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... OMIM:617140
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thick corpus callosum, Dysplastic corpus callosum OMIM:300967
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Polymicrogyria, Simplified gyral pattern, Ischemic stroke, Lateral ventricle dilatation, Dysplast... ORPHA:500150
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum ORPHA:466791
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Bilateral polymicrogyria, Microcephaly, Cortical dysplasia, Hypoplasi... OMIM:613406

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 Shtn1

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 Shtn1.

No publications found that use IMPC mice or data for Shtn1.

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
Shtn1em1(IMPC)J Exon Deletion Mice
Shtn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Shtn1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Shtn1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Shtn1tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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