Gene Summary

Name:
shootin 1
Synonyms:
shootin1,  4930506M07Rik

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
hyperactivity Shtn1em1(IMPC)J HOM Early adult 6.76×10-05
decreased lean body mass Shtn1em1(IMPC)J HOM Early adult 3.01×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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 Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Auditory Brain Stem Response

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

8 Images

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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hydrocephalus, Fusion of t... OMIM:617542
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hydrocephalu... OMIM:604213
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Immunodeficiency 8
Hyperactivity OMIM:615401
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Agenesis... OMIM:610031
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Lissencephaly 4
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:614019
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesis of... OMIM:614039
Sub-Cortical Nodular Heterotopia
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... ORPHA:101029
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus OMIM:600348
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Hypoplasia of the corpus callosum, Cortical dysp... OMIM:608716
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria ORPHA:250972
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Lissencephaly 3
Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Hypoplasia of the corpus callosum, Agenesis of... OMIM:611603
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Arrhinencephaly, Agenesis of corpus callosum OMIM:300073
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum OMIM:619501
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce... ORPHA:85179
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Lissencephaly, X-Linked, 1
Pachygyria, Lissencephaly, Agenesis of corpus callosum, Agyria OMIM:300067
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Dysgenesis of the hippocampus, Hypoplasia of the olfacto... ORPHA:300570
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum OMIM:233810
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the corpus ca... OMIM:618492
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum OMIM:211200
Familial Congenital Mirror Movements
Morphological abnormality of the corticospinal tract, Dysgenesis of the hippocampus, Agenesis of ... ORPHA:238722
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616681
Combined Oxidative Phosphorylation Deficiency 50
Partial agenesis of the corpus callosum, Microcephaly OMIM:619025
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Agenesis of corpus callosum OMIM:225040
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly OMIM:304100
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Abnormality of the basal ganglia, Hyp... ORPHA:255182
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Corticospinal tract hypoplasia, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callo... OMIM:307000
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly OMIM:619466
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mental Retardation, Autosomal Dominant 22
Agenesis of corpus callosum, Microcephaly OMIM:612337
Mucolipidosis Iv
Cerebral dysmyelination, Dysplastic corpus callosum, Microcephaly OMIM:252650
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Agenesis of corpus callosum, Microlissencephaly, Microcephaly OMIM:617090
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:303350
Craniotelencephalic Dysplasia
Arrhinencephaly, Lissencephaly, Agenesis of corpus callosum, Absent septum pellucidum OMIM:218670
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum... ORPHA:1528
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:612948
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Leukoencephalopathy OMIM:614924
Gaba-Transaminase Deficiency
Agenesis of corpus callosum OMIM:613163
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly OMIM:614833
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy ORPHA:166024
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Lissencephaly 7 With Cerebellar Hypoplasia
Lissencephaly, Agenesis of corpus callosum, Agyria, Microcephaly OMIM:616342
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Hydrocephalus OMIM:614120
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Hypoplasia of the corpus callosum, Agenesis of corpus callosum ORPHA:262767
Usmani-Riazuddin Syndrome, Autosomal Recessive
Agenesis of corpus callosum OMIM:619548
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microcephaly, Cerebral atrophy OMIM:274270
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly OMIM:617669
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Spinocerebellar Ataxia 23
Agenesis of corpus callosum OMIM:610245
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum, Simplified g... OMIM:619302
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Microcephaly ORPHA:2512
Holoprosencephaly 11
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly OMIM:614226
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Glycine Encephalopathy
Agenesis of corpus callosum OMIM:605899
Septooptic Dysplasia
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Agenesis of... OMIM:182230
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly ORPHA:2508
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Small basal ganglia, Periventricular leukomalacia, Cerebral atrophy, ... OMIM:616900
Juvenile Huntington Disease
Dystonia, Weight loss, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-... ORPHA:248111
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum OMIM:617127
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Thin corpus callosum, Reduced a... OMIM:619517
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Corticospinal tract hypoplasia, Pachygyria, Short corpus callosum, Periven... ORPHA:255138
Microcephaly, Amish Type
Partial agenesis of the corpus callosum, Progressive microcephaly OMIM:607196
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:225790
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Lissencephaly Type Iii And Bone Dysplasia
Agenesis of corpus callosum, Microlissencephaly OMIM:601160
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Agenesis of corpus callosum, Microcephaly OMIM:618736
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Progressive microceph... ORPHA:488627
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Progressive microcephaly, Hypoplasia of the corpus callosum, Dysplast... ORPHA:2524
Corpus Callosum Agenesis-Neuronopathy Syndrome
Agenesis of corpus callosum, Microcephaly, Aqueductal stenosis ORPHA:1496
Craniosynostosis 6
Abnormal corpus callosum morphology, Spina bifida occulta, Agenesis of corpus callosum, Microcephaly OMIM:616602
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Agenesis of corpus callosum OMIM:600638
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Agenesis of corpus callosum, Microcephaly OMIM:610680
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Oculocerebrodental Syndrome
Focal white matter lesions, Dysplastic corpus callosum, Abnormality of thalamus morphology ORPHA:557003
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Gait ataxia, Small for gestational age OMIM:609425
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Orofaciodigital Syndrome V
Agenesis of corpus callosum OMIM:174300
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum OMIM:618810
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly OMIM:616975
Subependymal Nodular Heterotopia
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Polymicrogyria, Focal cor... ORPHA:101030
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum OMIM:164180
Kapur-Toriello Syndrome
Pachygyria, Dysplastic corpus callosum, Polymicrogyria ORPHA:2328
Microhydranencephaly
Pachygyria, Hydranencephaly, Agenesis of corpus callosum, Microcephaly OMIM:605013
Al-Gazali-Bakalinova Syndrome
Agenesis of corpus callosum OMIM:607131
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity OMIM:618362
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Simplified gyral pattern, Pachygyria, Hypoplasia of the corpus callos... OMIM:619179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Hydrocephalus, Type II lissencephaly, Cortical dysplasia, Agenesis of corpus callosum OMIM:615287
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Pachygyria, Small ... ORPHA:86822
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Agenesis of corpus callosum, Microcephaly, Primary microcephaly ORPHA:466688
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:218350
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Amish Lethal Microcephaly
Spina bifida, Lissencephaly, Agenesis of corpus callosum, Microcephaly ORPHA:99742
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Lissencephaly, Progressive microcephaly, Hydrocephalus, Agyria, Type II lissencephaly, Agenesis o... OMIM:615249
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Agenesis of corpus callosum, Myelomeningocele OMIM:207950
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Agenesis of corpus callosum, Abn... OMIM:618476
Agnathia-Otocephaly Complex
Holoprosencephaly, Agenesis of corpus callosum OMIM:202650
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Microcephaly, Focal polymicr... OMIM:619103
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Decreased body weight OMIM:618342
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Curry-Jones Syndrome
Hemimegalencephaly, Agenesis of corpus callosum, Polymicrogyria, Megalencephaly OMIM:601707
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly OMIM:618569
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Primary microcephaly, Pachygyria, Thick cerebral cortex, Secondary mi... ORPHA:357058
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Meckel Syndrome 12
Cerebral hypoplasia, Agenesis of corpus callosum, Microcephaly OMIM:616258
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Partial agenesis of the corpus callosum, Primary microcephaly, Secondary microcephaly, Hyperinten... ORPHA:500144
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum... ORPHA:544488
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait, Failure to thrive OMIM:617865
Isolated Exencephaly
Holoprosencephaly, Anterior pituitary hypoplasia, Agenesis of corpus callosum, Posterior pituitar... ORPHA:563612
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity OMIM:301013
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Hydrolethalus
Arrhinencephaly, Anencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum ORPHA:2189
X-Linked Lissencephaly With Abnormal Genitalia
Pachygyria, Agenesis of corpus callosum, Microcephaly ORPHA:452
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Agenesis of corpus callosum ORPHA:990
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait, Obesity ORPHA:3077
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Agenesis of corpus callosum, Micro... ORPHA:314679
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Gand Syndrome
Hyperactivity OMIM:615074
Encephalocraniocutaneous Lipomatosis
Porencephalic cyst, Hydrocephalus, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesi... OMIM:613001
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity OMIM:615286
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Myelomeningocele, Polymicrogyria, Hydroceph... ORPHA:1136
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Histidinemia
Hyperactivity ORPHA:2157
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal hypointensity of cerebral white matter on MRI, Cerebral white matter hypoplasia, Large basa... ORPHA:261552
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Decreased body weight, Broad-based gait OMIM:300958
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Absent septum pellucidum, Polymicrog... OMIM:618820
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Hyperactivity, Ataxia OMIM:614104
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Hyperactivity, Ataxia ORPHA:52503
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity ORPHA:369939
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Failure to thrive, Truncal obesity, Hyperactivity, Attention deficit h... ORPHA:73272
Holoprosencephaly 7
Panhypopituitarism, Hydrocephalus, Alobar holoprosencephaly, Fusion of the left and right thalami... OMIM:610828
Fragile X Syndrome
Hyperactivity OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity OMIM:614613
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Pancreatic Agenesis-Holoprosencephaly Syndrome
Holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum ORPHA:556955
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Microcephaly OMIM:309801
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Colpocephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly, Agene... OMIM:301043
Hartsfield Syndrome
Gonadotropin deficiency, Lobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly OMIM:615465
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Ataxia, Hyperactivity, Broad-based gait, Obesity ORPHA:98794
Zttk Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Periventricular leukomalacia, Abno... OMIM:617140
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Pineal cyst, Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Septo-optic dysplasia, Holoprosencephaly, Decreased response to growth ... ORPHA:95494
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Angelman Syndrome
Hyperactivity, Obesity, Progressive gait ataxia, Broad-based gait OMIM:105830
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss ORPHA:99819
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the corpus callosum, Dysplas... OMIM:613406
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Abnormal cerebral cortex morphology, Simplified gyral pattern, Polymi... ORPHA:500150
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Holoprosencephaly 1
Alobar holoprosencephaly, Ethmocephaly, Agenesis of corpus callosum, Microcephaly OMIM:236100
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum ORPHA:466791
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Choreoacanthocytosis
Lingual dystonia, Loss of ambulation, Oromandibular dystonia, Weight loss, Falls, Bradykinesia, L... ORPHA:2388

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.

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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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