Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tsukushi, small leucine rich proteoglycan
Synonyms:
9530051K01Rik,  Lrrc54

IMPC Data Collections

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

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.

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 Tsku 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 Tsku by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schizencephaly
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum OMIM:269160
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Ven... OMIM:604213
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Ventriculomegaly, Primary microcephaly, Agenesis of corpus callosum ORPHA:171703
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior commissure OMIM:617542
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Mild malformation of cortical development, Abnormal... ORPHA:500166
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Primary micro... OMIM:614019
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu... OMIM:600638
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Agenesis of... ORPHA:101029
Microcephaly 5, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl... OMIM:608716
Leukoencephalopathy With Vanishing White Matter 5
Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr... OMIM:620315
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Hyperin... OMIM:620317
Ventriculomegaly And Arthrogryposis
Ventriculomegaly, Agenesis of corpus callosum OMIM:619501
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cortical dysplasia, Dysgenesis of the basal ganglia, Dilated fourth ventric... OMIM:615771
Isolated Corpus Callosum Agenesis
Agenesis of corpus callosum ORPHA:200
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Corpus Callosum, Agenesis Of
Microcephaly, Agenesis of corpus callosum OMIM:217990
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Polymicrogyria, Microcephaly, Unilateral polymicrogyria, Agene... OMIM:610031
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum ORPHA:2466
Band Heterotopia
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort... OMIM:600348
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Thin corpus callosum, Pachygyria, Abnormality of the anterior commissure ORPHA:572013
Lissencephaly Due To Tuba1A Mutation
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hypoplastic anteri... ORPHA:171680
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A... ORPHA:300573
Lissencephaly 3
Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Microcephaly, Agenesis of corpus callo... OMIM:611603
Unilateral Hemispheric Polymicrogyria
Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia ORPHA:101071
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Ventriculomegaly, Partial agenesis of the corpus callosum, Agenesis of corpus c... ORPHA:85179
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Congenital Disorder Of Glycosylation, Type Iiy
Thin corpus callosum, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Ventr... OMIM:620200
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Agenesis of corpus callosum ORPHA:401830
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly, Pachygyria, Lis... OMIM:618325
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal basal ganglia morphology, Abnormal ... ORPHA:255182
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Agenesis of the anterior commis... ORPHA:300570
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum OMIM:618276
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Short corpus callosum OMIM:619972
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ... OMIM:307000
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Lissencephaly, Agenesis of corpus callosum OMIM:619466
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Pontocerebellar Hypoplasia, Type 12
Cerebral atrophy, Primary microcephaly, Lateral ventricle dilatation, Cerebral hypoplasia OMIM:618266
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus callosum, Pachygyria, Ventricul... ORPHA:2512
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Lateral ventricle dilatation OMIM:300982
Corpus Callosum, Partial Agenesis Of, X-Linked
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Ventriculomegaly, Partial agenesi... OMIM:304100
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Cerebral cortical atrophy, Simplified gyral pattern, Abnormal cerebral white matter... OMIM:617668
Leukoencephalopathy, Progressive, With Ovarian Failure
Periventricular leukomalacia, Leukoencephalopathy, Progressive leukoencephalopathy, Lateral ventr... OMIM:615889
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum OMIM:614120
Craniotelencephalic Dysplasia
Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Lissencephaly ORPHA:1528
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
Central Neurocytoma
Hydrocephalus, Cerebral calcification, Abnormal lateral ventricle morphology ORPHA:73256
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum OMIM:619955
Alg2-Cdg
Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat... ORPHA:79326
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Mucolipidosis Iv
Microcephaly, Cerebral dysmyelination, Dysplastic corpus callosum OMIM:252650
Craniotelencephalic Dysplasia
Lissencephaly, Absent septum pellucidum, Agenesis of corpus callosum OMIM:218670
Martsolf Syndrome 2
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:619420
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor... OMIM:616900
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Lateral ventricle dilatation OMIM:616816
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly OMIM:614833
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb... OMIM:620156
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Abnormal periventricular white matter morphology, Dilated fourth ventricle, Abnormal cerebral whi... OMIM:613443
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Lateral ventricle dilatation, Corpus callosum atrophy ORPHA:77299
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Microcephaly, Thin corpus callosum, Partial agenesis of the corpus callosum, Lateral ventricle di... OMIM:619517
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ... ORPHA:79243
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation OMIM:619278
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Progressive microcephaly, Multifoc... ORPHA:488627
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Lateral ventricle dilatation OMIM:618890
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Abnormal cortical gyration, Progre... ORPHA:2524
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:618736
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Microphthalmia, Syndromic 11
Agenesis of corpus callosum OMIM:614402
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Lateral ventricle dilatation ORPHA:306669
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Hypoplasia of the corpus callosum, Basal ganglia calcification, Lateral ventric... OMIM:221770
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Basal ganglia gliosis, Cerebral cortical atrophy, L... OMIM:607596
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum OMIM:619737
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Glycosylphosphatidylinositol Biosynthesis Defect 17
Microcephaly, Dysplastic corpus callosum OMIM:618010
2,4-Dienoyl-Coa Reductase Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Colpocephaly, V... OMIM:616034
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum OMIM:616975
Craniosynostosis 6
Microcephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:616602
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Dysplastic corpus callosum OMIM:620001
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Simplified gyral pattern, La... ORPHA:284417
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified gyral pattern,... OMIM:615219
Septooptic Dysplasia
Absent septum pellucidum, Agenesis of corpus callosum OMIM:182230
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Dilated third ventricle, Corpus callosum atrophy, Microcephaly, Simplified gyra... OMIM:619244
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pat... OMIM:619179
Autosomal Recessive Cutis Laxa Type 2A
Secondary microcephaly, Dysplastic corpus callosum, Dandy-Walker malformation, Thick cerebral cor... ORPHA:357058
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:615716
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Dysplastic corpus callosum OMIM:604273
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Cerebral calcification, Dandy-Walker malformation, Mic... OMIM:617281
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Thin corpus callosum, Reduced cerebral white matter volume, Colpocephaly,... OMIM:620352
Holoprosencephaly 5
Microcephaly, Hydrocephalus, Lateral ventricle dilatation OMIM:609637
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Hypoplasia of the corpus callosum, Deep white matter hypodensities, Abnormal co... ORPHA:565624
Joubert Syndrome 3
Frontal polymicrogyria, Thin corpus callosum, Enlarged fossa interpeduncularis, Lateral ventricle... OMIM:608629
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebral white matter atrophy, Agyria,... ORPHA:2148
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Combined Oxidative Phosphorylation Deficiency 53
Secondary microcephaly, Dysplastic corpus callosum OMIM:619423
Bilateral Generalized Polymicrogyria
Microcephaly, Diffuse white matter abnormalities, Lateral ventricle dilatation, Hypoplasia of the... ORPHA:208447
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Lateral ventricle dilatation OMIM:600721
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Hyperintensity... ORPHA:544488
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Polymicrogyria, Microcephaly, Dilated fourth ventricle, Latera... OMIM:617751
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Periventricular leukomalacia, Thin corpus callosum, Hydrocephalus, Microcephaly, Colpocephaly, Ve... OMIM:619833
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Adams-Oliver Syndrome 2
Cerebral atrophy, Hydrocephalus, Polymicrogyria, Microcephaly, Lateral ventricle dilatation OMIM:614219
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Lateral ventricle dilatation ORPHA:85290
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Partial agenesis of the corpus callosum, Dysplastic corpus ca... OMIM:619103
Pontocerebellar Hypoplasia, Type 13
Microcephaly, Dandy-Walker malformation, Lateral ventricle dilatation, Hypoplasia of the corpus c... OMIM:618606
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Perisylvian polymicrogyria, Lateral... OMIM:618291
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:614105
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Leukoencephalopathy, Agenesis of corpus callosum, Dysplastic c... OMIM:614924
Slc35A2-Cdg
Cerebral atrophy, Hypoplasia of the corpus callosum, Cortical dysplasia, Cerebral white matter at... ORPHA:356961
Cach Syndrome
Globus pallidus hypointensity on susceptibility-weighted imaging, Cerebral atrophy, Dysgyria, Mic... ORPHA:135
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventr... OMIM:617296
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral white matter volume, Lateral ve... OMIM:620075
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:420179
Intellectual Developmental Disorder, Autosomal Dominant 56
Secondary microcephaly, Thin corpus callosum, Lateral ventricle dilatation OMIM:617854
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus c... ORPHA:314679
Fanconi Anemia, Complementation Group I
Microcephaly, Absent septum pellucidum, Colpocephaly, Agenesis of corpus callosum OMIM:609053
Pseudo-Torch Syndrome 2
Cerebral calcification, Polymicrogyria, Microcephaly, Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies OMIM:607485
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypoplasia of the corpus callosum, Secondary microcephaly, Colpocephaly, Agenesis of corpus callo... OMIM:620113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Dilated third ventricle, Lateral... OMIM:613154
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:618569
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Periventricular leukomalacia, Thin corpus callosum, Hydranencephaly, Hydrocephalus, Polymicrogyri... OMIM:620371
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Dandy-Walker malformation, Dilated fourth ventricle, Lateral ventricle dilatation ORPHA:3078
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal pyramidal tract morphology, Lateral ventricle dilatation OMIM:256850
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Ventr... OMIM:617260
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplasia of the corpus callosum, Secondary microcephaly, Polymicrogyria, Abnormal corpus callos... ORPHA:261552
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Periventricular leukomalacia, Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral v... ORPHA:293725
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, Cerebral white matter hypoplasia, Abnormal periventricular white matter morphol... ORPHA:572798
Halperin-Birk Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618651
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal basal ganglia morphology, Dandy-Walker malformation, Abnormal corpus callosum morphology... ORPHA:397715
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Probst bundles, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:612863
Autosomal Recessive Spastic Paraplegia Type 11
Hypoplasia of the corpus callosum, Focal T2 hyperintense basal ganglia lesion, Frontal cortical a... ORPHA:2822
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Lateral ventricle dilatation OMIM:618914
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Microcephaly, Cerebral atrophy, Primary microcephaly, Lateral ventricle dilatation OMIM:619847
Spondyloenchondrodysplasia
Cerebral calcification, Ventriculomegaly, Abnormal lateral ventricle morphology, Abnormal periven... ORPHA:1855
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:300952
Cog5-Cdg
Microcephaly, Cerebral white matter atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation ORPHA:263487
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Genitourinary And/Or Brain Malformation Syndrome
Secondary microcephaly, Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of cor... OMIM:618820
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Abnormal cerebral white matter morphology, Lateral ventricle... ORPHA:457279
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Dilated third ventr... ORPHA:464738
Lenz-Majewski Hyperostotic Dwarfism
Dysplastic corpus callosum, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum,... OMIM:151050
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Microcephaly, Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum OMIM:309801
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Aicardi-Goutieres Syndrome 9
Cerebral atrophy, Cerebral calcification, Diffuse leukoencephalopathy, Microcephaly, Basal gangli... OMIM:619487
Aicardi Syndrome
Cavum septum pellucidum, Polymicrogyria, Dandy-Walker malformation, Choroid plexus cyst, Dilated ... OMIM:304050
Neurocardiofaciodigital Syndrome
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Microcephaly, Dilated fourth ventricl... OMIM:619869
Zttk Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Dysplastic corpus callosum, Abno... OMIM:617140
Holoprosencephaly 13, X-Linked
Microcephaly, Agenesis of corpus callosum, Colpocephaly, Septo-optic dysplasia OMIM:301043
Peroxisome Biogenesis Disorder 5A (Zellweger)
Polymicrogyria, Agenesis of corpus callosum, Colpocephaly, Pachygyria OMIM:614866
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Ischemic stroke, Dysplastic corp... ORPHA:500150
6Q Terminal Deletion Syndrome
Hypoplasia of the corpus callosum, Polymicrogyria, Colpocephaly, Abnormal cerebral white matter m... ORPHA:75857
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Hypoplasia of the corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Mic... OMIM:210710
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia ORPHA:477993
Khan-Khan-Katsanis Syndrome
Microcephaly, Ventriculomegaly, Colpocephaly OMIM:618460
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618367
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Microcephaly, Colpocephaly OMIM:620083
Smith-Lemli-Opitz Syndrome
Hypoplasia of the corpus callosum, Hydrocephalus, Dandy-Walker malformation, Hypoplasia of the fr... OMIM:270400
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cortical dysplasia, Microcephaly, ... OMIM:613406
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum ORPHA:466791
Keppen-Lubinsky Syndrome
Microcephaly, Lateral ventricle dilatation OMIM:614098
Congenital Disorder Of Glycosylation, Type Iim
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:300896
Genitopatellar Syndrome
Thin corpus callosum, Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum OMIM:606170
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Secondary microcephaly, Abnormal lateral ventricle morphology, Abnormal corpus callosum morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Secondary microcephaly, Abnormal lateral ventricle morphology, Abnormal corpus callosum morphology ORPHA:353277

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 Tsku

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 Tsku.

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

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
Tskutm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tskutm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tskutm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tskutm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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