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Gene: Tsku MGI:2443855

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

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 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
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly ORPHA:171703
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal... ORPHA:500166
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... OMIM:614039
Lissencephaly 4
Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c... 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
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Leukoencephalopathy With Vanishing White Matter 5
Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,... OMIM:620315
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... ORPHA:101029
Microcephaly 5, Primary, Autosomal Recessive
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ... OMIM:608716
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis... OMIM:615771
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ... OMIM:610031
Masa Syndrome
Agenesis of corpus callosum, Ventriculomegaly ORPHA:2466
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Cerebral ... ORPHA:85179
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum ORPHA:572013
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Polymicrogyria Due To Tubb2B Mutation
Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po... ORPHA:300573
Lissencephaly 3
Microcephaly, Polymicrogyria, Lissencephaly, Hypoplasia of the corpus callosum, Pachygyria, Agene... OMIM:611603
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation ORPHA:101071
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum ORPHA:85334
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosum, Thin corpus callosum, Ventr... OMIM:620200
Lissencephaly, X-Linked, 1
Agenesis of corpus callosum, Pachygyria, Lissencephaly, Agyria OMIM:300067
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... ORPHA:255182
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
Pyruvate Dehydrogenase E1-Beta Deficiency
Agenesis of corpus callosum OMIM:614111
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum OMIM:619101
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... ORPHA:300570
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum OMIM:300073
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, Primary microcep... OMIM:617090
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Short corpus callosum, Lateral ventricle dilatation OMIM:619972
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve... ORPHA:2185
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Pontocerebellar Hypoplasia, Type 12
Cerebral hypoplasia, Lateral ventricle dilatation, Cerebral atrophy, Primary microcephaly OMIM:618266
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Lissencephaly, Hypoplasia of the corpus callosum OMIM:619466
Autosomal Recessive Primary Microcephaly
Microcephaly, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of corpus callosum, Ventricul... ORPHA:2512
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Agenesis of corpus callosum ORPHA:459074
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the corpus ca... OMIM:304100
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebral white matter mor... OMIM:617668
Leukoencephalopathy, Progressive, With Ovarian Failure
Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr... OMIM:615889
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum ORPHA:1528
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly OMIM:619955
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas... ORPHA:79326
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:616816
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:614833
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Lissencephaly, Absent septum pellucidum OMIM:218670
Martsolf Syndrome 2
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:619420
Pyruvate Dehydrogenase E1-Beta Deficiency
Ventriculomegaly, Periventricular cysts, Hypoplasia of the corpus callosum, Short corpus callosum... ORPHA:255138
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... OMIM:620156
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation... OMIM:613443
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Diffuse cerebral atrophy, Lateral ventricle dilatation, Microcephaly ORPHA:77299
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum OMIM:620135
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Thin corpus callosum, Lateral ventricle dilatation, Micr... OMIM:619517
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Basal ... ORPHA:79243
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Microcephaly OMIM:619278
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca... ORPHA:488627
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618890
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:618736
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2182
Delpire-Mcneill Syndrome
Cortical dysplasia, Agenesis of corpus callosum OMIM:619083
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of the corpu... ORPHA:2524
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
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent... OMIM:221770
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Microcephaly, Lateral ventricle dilatation, Basal ganglia gliosis... OMIM:607596
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities OMIM:619737
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
2,4-Dienoyl-Coa Reductase Deficiency
Microcephaly, Hydrocephalus, Cerebral atrophy, Colpocephaly, Hypoplasia of the corpus callosum, V... OMIM:616034
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventriculomegaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly OMIM:616975
Craniosynostosis 6
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly OMIM:616602
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly OMIM:620001
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... OMIM:619244
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Hypoplasia of the corpus c... ORPHA:284417
Septooptic Dysplasia
Agenesis of corpus callosum, Absent septum pellucidum OMIM:182230
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call... OMIM:619179
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Thin corpus callosum, Microcephaly OMIM:615716
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly OMIM:604273
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria, Microcephaly OMIM:618731
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcepha... ORPHA:357058
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly ORPHA:1496
Developmental And Epileptic Encephalopathy 31B
Reduced cerebral white matter volume, Colpocephaly, Secondary microcephaly, Agenesis of corpus ca... OMIM:620352
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Basal ganglia calcification, Dysplastic c... OMIM:617281
Holoprosencephaly 5
Lateral ventricle dilatation, Hydrocephalus, Microcephaly OMIM:609637
Combined Oxidative Phosphorylation Defect Type 39
Microcephaly, Corpus callosum atrophy, Deep white matter hypodensities, Cerebral atrophy, Abnorma... ORPHA:565624
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618619
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Lateral ventricle dilatation,... ORPHA:2148
Joubert Syndrome 3
Frontal polymicrogyria, Lateral ventricle dilatation, Enlarged fossa interpeduncularis, Thin corp... OMIM:608629
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Secondary microcephaly OMIM:619423
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Diffuse white matter abnormalities, Hypoplasia of the corpus callos... ORPHA:208447
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities OMIM:600721
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Pachygyria, Polymicrogyria ORPHA:2328
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat... ORPHA:544488
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Microcephaly, Hydrocephalus, Colpocephaly, Periventricular leukomalacia, Thin corpus callosum, Ve... OMIM:619833
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:610015
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... OMIM:617751
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... OMIM:614924
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... OMIM:619103
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Thin corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:614105
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cere... OMIM:618291
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation, Hypoplasia of the corpus callosum, Micro... OMIM:618606
Slc35A2-Cdg
Cerebral white matter atrophy, Microcephaly, Cortical dysplasia, Cerebral atrophy, Abnormal cereb... ORPHA:356961
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w... OMIM:620075
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Cerebral atrophy, Lateral ventr... OMIM:617296
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum OMIM:618810
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:420179
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callosum OMIM:617854
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Absent septum pellucidum, Microcephaly OMIM:609053
Cerebrofacioarticular Syndrome
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Agenesis of corpus c... ORPHA:314679
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy OMIM:607485
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ... OMIM:620113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... OMIM:613154
Pseudo-Torch Syndrome 2
Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly OMIM:617397
Cach Syndrome
Lateral ventricle dilatation, Dysgyria, Cerebral atrophy, Microcephaly ORPHA:135
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation, Microcephaly ORPHA:3078
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Focal hypointensity of cerebral white matter on MRI, Hypoplastic anterior commissure, Large basal... ORPHA:261552
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Colpocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventr... OMIM:617260
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Leukoencephalopathy, Cerebral atrophy, Lateral ventricle dilatation, Ce... ORPHA:572798
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Halperin-Birk Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618651
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Lateral ventricle dilatation, Hypoplasia of the corpus call... ORPHA:2822
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocephalus OMIM:612863
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Ventriculomegaly, Absent septum pellucidum, Abnormal basal ganglia morphology, Colpocephaly, Late... ORPHA:397715
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Hypoplasia of the corpus callosum OMIM:618914
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Cerebral calcification, Abnormal lateral ventri... ORPHA:1855
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Microcephaly, Cerebral atrophy, Primary microcephaly OMIM:619847
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:261250
Cog5-Cdg
Diffuse cerebral atrophy, Cerebral white matter atrophy, Lateral ventricle dilatation, Microcephaly ORPHA:263487
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym... OMIM:618820
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Lateral ventricle dilatation, Abnormal corpus callosum morphology, Abnor... ORPHA:457279
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ... ORPHA:464738
Lenz-Majewski Hyperostotic Dwarfism
Microcephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy,... OMIM:151050
Linear Skin Defects With Multiple Congenital Anomalies 1
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum OMIM:309801
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Microcephaly, Basal ganglia calcification, Diffuse leukoencephalopathy, C... OMIM:619487
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Aicardi Syndrome
Microcephaly, Dilated third ventricle, Partial agenesis of the corpus callosum, Choroid plexus cy... OMIM:304050
Peroxisome Biogenesis Disorder 5A (Zellweger)
Macrogyria, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Polymicrogyria OMIM:614866
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Agenesis of corpus callosum, Colpocephaly, Microcephaly OMIM:301043
Zttk Syndrome
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Hypoplasia of the corpus c... OMIM:617140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Dysplastic corpus callosum, Simplified gyral pattern, Abnormal cerebral white m... ORPHA:500150
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus ca... OMIM:619869
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:619479
6Q Terminal Deletion Syndrome
Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of the corpus callosum, Abnor... ORPHA:75857
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus,... OMIM:210710
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:477993
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly, Microcephaly OMIM:618460
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly OMIM:618367
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Microcephaly OMIM:620083
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Thick corpus callosum OMIM:300967
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, C... OMIM:270400
Osteopetrosis, Autosomal Recessive 7
Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Hypoplasia of the corpus callosum ORPHA:466791
Witteveen-Kolk Syndrome
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... OMIM:613406
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly OMIM:300896
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Microcephaly OMIM:614098
Genitopatellar Syndrome
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum OMIM:606170
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Secondary microcephaly, Abnormal corpus callosum morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Secondary microcephaly, 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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