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Gene: Svbp MGI:1916466

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
small vasohibin binding protein
Synonyms:
2410005K17Rik,  Svbp,  Ccdc23

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hypoplasia of the pons, Midline brainstem cleft, Fusion o... OMIM:617542
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dys... ORPHA:300573
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology... ORPHA:467166
Basal Ganglia Calcification, Idiopathic, 5
Cerebral calcification, Cerebellar calcifications, Basal ganglia calcification, Depression, Demen... OMIM:615483
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Decr... ORPHA:500166
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Microcephaly, Cerebral atrophy, Abnormal cerebral white matter morphology, Irritab... OMIM:616657
Coasy Protein-Associated Neurodegeneration
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal... ORPHA:397725
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Delayed early-childhood so... ORPHA:300570
Dystonia 30
Diffuse cerebral atrophy, Impulsivity, Aggressive behavior, Globus pallidus hypointensity on susc... OMIM:619291
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity, Progressive microcephaly OMIM:608443
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... OMIM:614963
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Basal ganglia calcification, T2 hypointense thalamus, Leukoencephalopathy, Demen... OMIM:618193
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop... OMIM:604213
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Dysplastic corpus callosum, Aggressive behavior, Primary microcephaly OMIM:618010
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Decreased thalamic volume, Simplified gyral pattern, Hypoplasia of the brainstem, C... OMIM:619072
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... OMIM:618325
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... OMIM:610031
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Decreased thalamic volume, Hypoplasia of the brainstem, Secondary micro... OMIM:613668
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Abnormal cerebellum morphology, Abnormal brainstem morphology, Periventricular cyst... ORPHA:255182
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... OMIM:608716
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Abnormal substantia nigra morphology, Mental deterioration, Emotional labil... ORPHA:2822
Cach Syndrome
Cerebellar atrophy, Progressive neurologic deterioration, Microcephaly, T2 hypointense thalamus, ... ORPHA:135
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Hyperactivity, Microcephaly, Simplified gyral pattern, Hypoplasia of the corp... OMIM:613402
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Microcephaly, Aggressive behavior, Simplified gyral pattern, Cerebral a... OMIM:618492
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior, Microcephaly OMIM:615493
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Global brai... OMIM:618276
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Microcephaly, Abnormal pituitary gland morphology, Abnormal hypotha... ORPHA:314621
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity... OMIM:618929
Alexander Disease Type I
Cerebellar atrophy, Progressive macrocephaly, Abnormal thalamic MRI signal intensity, Abnormal ce... ORPHA:363717
Septopreoptic Holoprosencephaly
Short attention span, Abnormal midbrain morphology, Impulsivity, Megalencephaly, Microcephaly, Hy... ORPHA:280195
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Confusion, Abnormal brainstem MRI signal intensity, Abnormal basal ganglia morpholo... ORPHA:263410
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Optic nerve hypoplasia, Dysphagia, Aplasia/Hypoplasia of ... ORPHA:572013
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the b... OMIM:615771
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c... OMIM:605899
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Microceph... ORPHA:370959
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume, Abnormal basal ganglia morphology, Hypoplasia of the olfactory bulb OMIM:618646
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Microcephaly, Abnormal fear-induced behavior, Cortical dysplasia, Pseudobulb... ORPHA:208441
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Basal ganglia calcification, Cerebellar calcifications, Thalamic calcification OMIM:618824
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification, Dysphagia, Mental deterioration, Memory impa... OMIM:618317
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral atrophy, Depression, Abnormal cerebral white matter morphology, Foca... ORPHA:79264
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Hypoplasia of the corpus callos... OMIM:617862
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, T2 hypointense thalamus, Cerebral atrophy, Dementia, Cognitive impairment, Dy... ORPHA:1947
Neuroferritinopathy
Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign... ORPHA:157846
Amoebiasis Due To Free-Living Amoebae
Restlessness, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Confusion, Abn... ORPHA:68
Stxbp1-Related Encephalopathy
Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Tongue thrusting, Abnormal pons ... ORPHA:77299
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microceph... ORPHA:171680
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem, Agenesis o... OMIM:620200
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Stereotypical body rocking, Agitat... OMIM:309548
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... ORPHA:250972
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly OMIM:274270
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy... OMIM:301107
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic c... ORPHA:2524
Mucolipidosis Iv
Cerebellar atrophy, Progressive neurologic deterioration, Cerebral dysmyelination, Microcephaly, ... OMIM:252650
Pontocerebellar Hypoplasia Type 10
Irritability, Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex m... ORPHA:411493
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Abnormal basal gangl... ORPHA:99852
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Microc... OMIM:615286
Oculoskeletodental Syndrome
Abnormal thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Acute Disseminated Encephalomyelitis
Hypointensity of cerebral white matter on MRI, Confusion, Aggressive behavior, Abnormal brainstem... ORPHA:83597
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Cerebral infarct, Progressive neurologic deterioration, De... ORPHA:254881
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
New-Onset Refractory Status Epilepticus
Abnormal basal ganglia MRI signal intensity, Cerebellar edema, Confusion, Abnormal thalamic MRI s... ORPHA:363558
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cogn... ORPHA:1532
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Schizencephaly, Hyperactivity, Impulsivity, Microcephaly, Pachygyria, Aggressive behavior, Simpli... OMIM:604317
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Abnormal brainstem morphology, Aggressive behavior ORPHA:2382
Craniopharyngioma
Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Pituitary h... ORPHA:54595
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Periventricular white matter hyperintensities, Attention deficit hype... OMIM:301008
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Microcephaly, Lateral vent... OMIM:617751
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Microcephaly, Aggressive behavior, Simplified gyral pattern, Periventricular white... OMIM:619470
Neurodevelopmental Disorder With Language Delay And Seizures
Diffuse cerebral atrophy, Hypothalamic hamartoma, Attention deficit hyperactivity disorder, Obses... OMIM:619908
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem morpholo... ORPHA:88619
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Neuronal loss in basal ganglia, Depression, Abnormal cerebral ... ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Microcephaly, Aggressive behavior, Self-biting, Self-injurious behavi... OMIM:619827
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy OMIM:619057
Combined Oxidative Phosphorylation Defect Type 7
Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal ... ORPHA:254930
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Leukoencephalopathy OMIM:613724
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Paucity of anterior... ORPHA:79139
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... OMIM:620001
Phenylketonuria
Hyperactivity, Cerebral calcification, Microcephaly, Aggressive behavior, Depression, Irritabilit... OMIM:261600
Central Precocious Puberty In Male
Pituitary microadenoma, Attention deficit hyperactivity disorder, Hypothalamic hamartoma, Aggress... ORPHA:649929
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Secondary mi... OMIM:619306
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Abnormal thalamic MRI signal int... ORPHA:485421
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Reduced cerebral white matter volume, Microcephaly, Cerebral atrophy, Hypopla... OMIM:613477
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal th... ORPHA:444013
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Macrocephaly, Hypothalamic... OMIM:619775
47,Xyy Syndrome
Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Abnormal brainstem morpholo... ORPHA:8
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencepha... OMIM:614833
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Mild microcephaly, Abnormal cerebral white matter morphology, Secondary microcepha... OMIM:613192
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Cerebellar atrophy, Neuronal loss in basal ganglia, ... ORPHA:506
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Microcephaly, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy,... OMIM:617493
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Cerebral white matter atrophy, Abnormal thalamus morphology, Atte... ORPHA:435638
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Cerebral white matter atrophy, Hyperactivity, Microcephaly, Corpus callosum a... ORPHA:369939
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hy... ORPHA:2570
Fg Syndrome 3
Chiari type I malformation, Relative macrocephaly, Hyperactivity, Agenesis of corpus callosum OMIM:300406
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Depression, Macrocephaly, Abnormal cerebral whi... ORPHA:485350
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum OMIM:618090
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:617127
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ... ORPHA:370022
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Cerebellar hypoplasia... OMIM:616900
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agene... OMIM:619103
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Abnormal neuron morphology, Mental deterioration, Stereotypic... ORPHA:163681
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Dysphoria... OMIM:620242
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cerebral cortex morphology,... ORPHA:163961
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors ORPHA:404440
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... OMIM:616975
Tay-Sachs Disease
Cerebellar atrophy, Short attention span, Hypointensity of cerebral white matter on MRI, Progress... ORPHA:845
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Microcephaly, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Pa... OMIM:618718
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior, Cerebral atrophy, Hypoplasia of th... ORPHA:500180
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt... OMIM:619737
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Macro... ORPHA:59315
Pallister-Hall-Like Syndrome
Microcephaly, Chiari type I malformation, Hypothalamic hamartoma, Macrocephaly, Anterior hypopitu... OMIM:241800
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Se... ORPHA:544488
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... ORPHA:251937
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Microcephaly OMIM:617182
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Abnormal cerebellar cortex morphology, Depression, Cognit... ORPHA:70595
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Cessation of head growth, Inappropriate laughter, Polyphagia ORPHA:411515
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Slc35A2-Cdg
Cerebellar atrophy, Cerebral white matter atrophy, Abnormal midbrain morphology, Microcephaly, Co... ORPHA:356961
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Aggressive behavior, Dysplastic corpus... ORPHA:488627
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Abnormal cerebellum morphology, Deep white matter hypodens... ORPHA:565624
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus ... ORPHA:357058
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Cortical dysplasia, Progressive language deterioration, Atten... OMIM:610042
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Abnormal cerebral white matter morphology, Irri... ORPHA:391307
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Cognitive impairment, Microcephaly ORPHA:2959
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cerebral atrophy, Inappropriate behavior, Cognitive impairment, P... ORPHA:309246
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Agitation OMIM:619046
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Cerebral cortical atrophy, Progressive macrocephaly ORPHA:309155
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Microcephaly, Self-injurious behavior, Thin corpus callosum OMIM:620023
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Psychomotor deterioration, Hyperactivity, Short attention span, Impulsivity, ... ORPHA:35069
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Attention deficit hyperactivity di... OMIM:620141
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Cognitive impairment, Abnormal dentate nucleus morphology... ORPHA:48818
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Cerebellar vermis hypoplasia, Cerebral calcification, Microcephaly, Dysplastic cor... OMIM:617281
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Hypoplasia... ORPHA:370997
Early-Onset Autosomal Dominant Alzheimer Disease
Confusion, Neurofibrillary tangles, Dementia, Agitation, Disinhibition, Semantic dementia, Memory... ORPHA:1020
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Cerebral atrophy... ORPHA:168491
Hydrolethalus Syndrome 2
Anencephaly, Agenesis of corpus callosum, Molar tooth sign on MRI OMIM:614120
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Macrocephaly... OMIM:309520
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... OMIM:619179
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Abnormal eating behavior, Cessation of head growth, Tongue t... ORPHA:98794
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Holoprosencephaly 7
Microcephaly, Partial agenesis of the corpus callosum, Panhypopituitarism, Hypoplasia of the brai... OMIM:610828
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Irritability, Self... ORPHA:449291
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Hydranencephaly
Dysgenesis of the thalamus, Optic nerve hypoplasia, Thalamic edema, Primary microcephaly, Cerebra... ORPHA:2177
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Progressive neurologic deter... ORPHA:206448
Adenylosuccinase Deficiency
Cerebellar atrophy, Hyperactivity, Microcephaly, Aggressive behavior, Cerebral atrophy, Inappropr... OMIM:103050
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Depression, Dementia, Compulsive behaviors, Dysphagia, Memory impa... ORPHA:93256
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Elevated circulating growth hormone concentration, Microcephaly OMIM:608747
Joubert Syndrome 1
Hyperactivity, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem dysplasia, ... OMIM:213300
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Cerebral atrophy, Depression, Abnormal cerebral white matter morphology, Atro... ORPHA:314404
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Abnormal corpus callos... OMIM:611560
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Abnormal brainstem morpholog... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Abnormal brainstem morpholog... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Abnormal brainstem morpholog... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Microcephaly, Abnormal brainstem morpholog... ORPHA:93924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Dandy-Walker malformation, Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the brains... OMIM:236670
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Self-injurious behavior, ... ORPHA:314679
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Microcephaly ORPHA:2165
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Focal hypointensity of cerebral whit... ORPHA:261552
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Hereditary Cryohydrocytosis With Reduced Stomatin
Intracerebral periventricular calcifications, Microcephaly, Decreased thalamic volume, Macrocepha... ORPHA:168577
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Abnormal pons morphology, Elevated circulating growth hormone concentration, Aggre... ORPHA:85327
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Confusion, Dysphagia, Mental deterioration, Memory impairmen... ORPHA:139396
Autosomal Dominant Spastic Paraplegia Type 36
Abnormal brainstem MRI signal intensity, Dementia ORPHA:320365
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Ce... OMIM:610217
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Porencephalic cyst, Hypothalamic hamartoma, Molar tooth sign on MRI... OMIM:277170
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Cerebellar hypoplasia OMIM:618810
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Microcephaly, Hypoplasia of the pons, Abnormal repetitive mannerisms, Partial agen... OMIM:619512
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal brainstem morphology ORPHA:2720
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Lissencephaly, Cerebellar... OMIM:617822
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Abnormal pyramidal tract morphology, Leukoencephalopathy... ORPHA:83629
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of olfactory ... ORPHA:2754
Joubert Syndrome 2
Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, Macrocephaly, Dy... OMIM:608091
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Secondar... OMIM:618820
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology ORPHA:464321
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Microphthalmia, Syndromic 3
Anterior pituitary hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypothalamic hamartoma, Hypo... OMIM:206900
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Simplified gyral pattern, Primary microcephaly, Emotional lability, Enlarged cereb... OMIM:620047
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Microcephaly, Abnormal brainstem morphology, Posterior pituitary hypoplasia, Hypoplasia of the co... ORPHA:464311
Familial Cerebral Saccular Aneurysm
Encephalomalacia, Abnormal brainstem morphology ORPHA:231160
Choreoacanthocytosis
Caudate atrophy, Compulsive behaviors, Small basal ganglia, Self-mutilation of tongue and lips du... ORPHA:2388
Ethylmalonic Encephalopathy
Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity ORPHA:51188
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Relative macrocephaly, Impulsivity, Aggressive behavior, Dysplastic corpus callosum, Thick corpus... OMIM:300967
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Orofaciodigital Syndrome I
Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Hypothalamic hama... OMIM:311200
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Mild microcephaly ORPHA:363444
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, ... ORPHA:444072
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the corpus ... ORPHA:457284
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Dysphagia, Irritability, Secondary microcephaly, Hypoplasia of the c... ORPHA:447997
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Relative macrocephaly, Anterior pituitary hypoplasia, Aggressive behavior, Shyness, Dysplastic co... ORPHA:466791
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Abnormal midbrain morphology, Aggressive b... ORPHA:293987
Lenz-Majewski Hyperostotic Dwarfism
Relative macrocephaly, Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, A... OMIM:151050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Lissencephaly, Cognitive impair... ORPHA:258
Bickerstaff Brainstem Encephalitis
Confusion, Abnormal thalamic MRI signal intensity ORPHA:79138
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... ORPHA:353277
Norrie Disease
Microcephaly, Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, Ap... ORPHA:649
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Anorexia, Abnormal brainstem MRI signal intensity, Depress... ORPHA:297
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
White-Kernohan Syndrome
Dysplastic corpus callosum, Attention deficit hyperactivity disorder OMIM:619426
Zttk Syndrome
Relative macrocephaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Cer... OMIM:617140
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... OMIM:243910
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Relative macrocephaly, Optic nerve hypoplasia, Dysplastic corpus callosum, Simplified gyral patte... ORPHA:500150
Pallister-Hall Syndrome
Abnormal basal ganglia MRI signal intensity, Adrenocorticotropic hormone deficiency, Gonadotropin... ORPHA:672
Achondroplasia
Brain stem compression, Macrocephaly, Megalencephaly OMIM:100800
Pallister-Hall Syndrome
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma OMIM:146510
Williams Syndrome
Microcephaly, Atrophy/Degeneration involving the corticospinal tracts, Depression, Abnormal socia... ORPHA:904
Witteveen-Kolk Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Microcephaly, Aggressive be... OMIM:613406
Arnold-Chiari Malformation Type I
Chiari type I malformation, Brain stem compression, Dysphagia ORPHA:268882
Full Nf2-Related Schwannomatosis
Memory impairment, Abnormal cerebellum morphology, Brain stem compression, Dysphagia ORPHA:637
Paget Disease Of Bone 2, Early-Onset
Brain stem compression OMIM:602080
Listeriosis
Abnormal brainstem MRI signal intensity, Irritability ORPHA:533
Osteogenesis Imperfecta
Relative macrocephaly, Brain stem compression, Macrocephaly, Dysphagia ORPHA:666

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 Svbp

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 Svbp.

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

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
Svbptm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Svbptm455369(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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