Gene Summary

Name:
ubiquitin carboxyl-terminal esterase L5
Synonyms:
5830413B11Rik,  Uch37

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Uchl5tm1(NCOM)Mfgc HOM   Early adult 0.00
decreased locomotor activity Uchl5tm1(NCOM)Mfgc HET   Early adult 3.86×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Uchl5 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 Uchl5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Short stature, Growth delay OMIM:614019
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Dandy-Walker Syndrome
Agenesis of cerebellar vermis, Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebe... OMIM:220200
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Molar tooth sign on MRI, Anencephaly OMIM:614120
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:600348
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Intrauterine growth retardation, Abnormal lateral ventricle morphology, Cereb... ORPHA:488635
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydr... ORPHA:1532
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Partial agenesis of the corpus callosum, Dilated fourth ventricle, Cerebellar vermis hypoplasia, ... OMIM:615771
Pontocerebellar Hypoplasia, Type 12
Cerebellar hypoplasia, Lateral ventricle dilatation, Hypoplasia of the brainstem OMIM:618266
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Super... OMIM:617622
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Joubert Syndrome 31
Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Neonatal death OMIM:614870
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Ethmoidal encephalocele, Rhombencephalosyna... ORPHA:280195
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Short stature, Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Joubert Syndrome 16
Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation OMIM:614465
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Mol... OMIM:611134
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Hol... OMIM:617967
Joubert Syndrome 9
Ventriculomegaly, Encephalocele, Molar tooth sign on MRI OMIM:612285
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degene... ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, Lateral ventricle dilatation, ... OMIM:613154
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Joubert Syndrome 18
Occipital encephalocele, Intrauterine growth retardation, Agenesis of corpus callosum, Molar toot... OMIM:614815
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida o... OMIM:618736
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Autosomal Recessive Spastic Paraplegia Type 66
Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o... OMIM:617542
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Dila... OMIM:610688
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Hypoplasia of the pons, Hyp... ORPHA:370959
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:614175
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the ve... OMIM:607596
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Lateral ventricle dilatation, Abnormal brainstem morp... ORPHA:300573
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Elo... OMIM:608629
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Ventriculomegaly, Abnormal cerebellum morphology, Agenesis of corp... ORPHA:255182
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, ... OMIM:617751
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebellar atrophy, Intrauterine growth retardation, Colpocephaly, Hydrocephalus OMIM:616034
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Martsolf Syndrome 2
Short stature, Lateral ventricle dilatation OMIM:619420
Joubert Syndrome 22
Agenesis of cerebellar vermis, Intrauterine growth retardation, Molar tooth sign on MRI OMIM:615665
Corpus Callosum Agenesis-Neuronopathy Syndrome
Aqueductal stenosis, Agenesis of corpus callosum ORPHA:1496
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Ventriculomegaly, Cerebellar atrophy, Dilated fourth ventricle, Intrauterine growth retardation, ... OMIM:620428
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Cach Syndrome
Cerebellar atrophy, Lateral ventricle dilatation, Cerebellar vermis atrophy, Intrauterine growth ... ORPHA:135
Slc35A2-Cdg
Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Intrauterine grow... ORPHA:356961
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Short statur... OMIM:614831
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occul... OMIM:616602
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220220
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Joubert Syndrome 15
Exencephaly, Molar tooth sign on MRI OMIM:614464
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Dilated fourth ventr... ORPHA:171680
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Spinocerebellar Ataxia, Autosomal Recessive 2
Short stature, Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar hypoplasia OMIM:213200
Global Developmental Delay With Or Without Impaired Intellectual Development
Short stature, Lateral ventricle dilatation OMIM:618330
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Growth delay OMIM:620156
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Encepha... OMIM:614424
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Occipital encephalocele,... ORPHA:397715
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal brainstem morphology, Hydrocephalus, Age... ORPHA:163961
Joubert Syndrome 7
Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Joubert Syndrome 2
Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainste... OMIM:608091
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cerebellar hypoplasia, Colpocephaly OMIM:618731
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal thalamus morphology, Hypoplasia of the p... ORPHA:467166
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Partial agenesis of the corpus callosum, Lateral ventricle d... OMIM:619517
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Cerebellar vermis atrophy, Dilated fourth ventricle OMIM:619054
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Molar to... ORPHA:220497
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Cerebellar cyst, Intrauterine growth retardation,... ORPHA:79243
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar cyst OMIM:615960
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Adams-Oliver Syndrome 2
Cerebellar hypoplasia, Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation OMIM:614219
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:284417
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Intrauterine growth retardation ORPHA:3035
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Intrauterine growth retardation, Colpocephaly, Hydrocephalus, Short stature OMIM:619833
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Cerebellar atrophy, Hydrocephalus, Partial absence of... OMIM:619895
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Encephalocele, Agenesis of corpus callosum, Abnormal hypothalamus m... ORPHA:314621
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Intrauterine growth retardation,... OMIM:618651
Joubert Syndrome 10
Short stature, Cerebellar vermis hypoplasia, Growth delay, Molar tooth sign on MRI OMIM:300804
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Lateral ventricle dilatation, Dandy-Walker ... OMIM:618606
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... OMIM:615219
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Fusion of the left and right thalami, ... OMIM:619306
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Ventriculomegaly, Lateral ventricle dilatation, Cerebellar hypoplas... OMIM:618291
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Lateral ventricle dilatation OMIM:615716
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation ORPHA:85290
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Molar to... ORPHA:220493
Severe X-Linked Intellectual Disability, Gustavson Type
Lateral ventricle dilatation, Dilated fourth ventricle, Cerebellar hypoplasia, Severe postnatal g... ORPHA:3078
Joubert Syndrome 38
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia,... OMIM:619476
Malan Overgrowth Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Hypoplasia of the brainstem ORPHA:420179
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation OMIM:221770
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Ventriculomegaly, Dilated third ventricle, Hypoplasia of the pons, ... OMIM:615574
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Encephalocele, Hydrocephalus, Molar tooth sign on MRI ORPHA:2318
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Short stature, Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar atrophy ORPHA:1170
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Enlarged fossa interpeduncularis, Dysgenesis of the cerebellar verm... OMIM:213300
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Intrauterine growth retardation ORPHA:1788
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Growth delay ORPHA:411493
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Fanconi Anemia, Complementation Group I
Chiari malformation, Decreased response to growth hormone stimulation test, Intrauterine growth r... OMIM:609053
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Hydrocephalus, Aqueductal stenosis, Dandy-Walker ... OMIM:304340
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation, Neonatal death OMIM:610015
Orofaciodigital Syndrome Xvi
Ventriculomegaly, Molar tooth sign on MRI OMIM:617563
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:619244
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Bilateral Generalized Polymicrogyria
Short stature, Growth delay, Lateral ventricle dilatation ORPHA:208447
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Occipital meningocel... OMIM:616546
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Intrauterine growth retardation, Abnormal cerebellum morphology, Ce... ORPHA:565624
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal brainstem morphology, Abnormal pons morp... ORPHA:370997
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Severe short stature, Ventriculomegaly, Infancy onset short-trunk s... ORPHA:444072
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar vermis hypoplasia, Postnatal growth retardation, Dilated fourth ventricle, Intrauterin... ORPHA:357058
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:618619
Spinocerebellar Ataxia, Autosomal Recessive 33
Cerebellar hypoplasia, Dilated fourth ventricle OMIM:620208
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Joubert Syndrome 37
Short stature, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Galloway-Mowat Syndrome
Short stature, Aqueductal stenosis, Intrauterine growth retardation ORPHA:2065
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Ventriculomegaly, Cerebellar atrophy, Lateral ventricle dilatation,... ORPHA:572798
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Ataxia-Telangiectasia-Like Disorder
Short stature, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy ORPHA:251347
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Ventriculomegaly, Dysgenesis of the cerebellar vermis, Disproportionate sh... OMIM:619479
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation, Pontocerebellar atrophy OMIM:617854
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Aplasia/Hypoplasia of the cerebellar vermi... OMIM:216360
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Abnormal thalamus morphology, Hypopla... ORPHA:300570
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Ventriculomegaly, Dilated third ventricle, Hydrocephalus ORPHA:500055
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Postnatal growth retardation, Intrauterine growth retardation, Agenesis of corpus callosum, Colpo... OMIM:620113
Cog5-Cdg
Cerebellar atrophy, Lateral ventricle dilatation, Intrauterine growth retardation, Atrophy/Degene... ORPHA:263487
Chromosome 6Q24-Q25 Deletion Syndrome
Lateral ventricle dilatation, Intrauterine growth retardation, Agenesis of corpus callosum, Hydro... OMIM:612863
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Lateral ventricle dilatation, Chiari type I malformation, Hydrocephalus,... OMIM:619575
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Intrauterine growth retardation, Neonatal death OMIM:251230
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Short stature, Lateral ventricle dilatation OMIM:619995
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Pseudo-Torch Syndrome 2
Cerebellar hypoplasia, Ventriculomegaly, Lateral ventricle dilatation OMIM:617397
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Arima Syndrome
Cerebellar vermis hypoplasia, Growth delay, Hypoplasia of the brainstem, Brainstem dysplasia, Dil... OMIM:243910
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Abnormal cerebellar vermis morphology, Dilated third ventricle, Later... ORPHA:544488
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal thalamus morphology, Abnormal substantia nigra morphology,... ORPHA:79139
Spondyloenchondrodysplasia
Ventriculomegaly, Decreased response to growth hormone stimulation test, Abnormal lateral ventric... ORPHA:1855
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus ORPHA:2720
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dysplasia, Hydroce... ORPHA:8
Neurooculorenal Syndrome
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the po... OMIM:620305
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Ventriculomegaly, Decreased response to growth hormone stimulation test, Agenesis of corpus callo... OMIM:617260
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Chiari malformation, Hydrocephalus ORPHA:93259
Aicardi Syndrome
Cerebellar vermis hypoplasia, Dilated third ventricle, Chiari malformation, Lateral ventricle dil... OMIM:304050
Machado-Joseph Disease Type 3
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Abnormal lower motor neur... ORPHA:276244
Cerebellofaciodental Syndrome
Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the midbrain, Cerebellar hypoplasia, Shor... OMIM:616202
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem ORPHA:314404
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lateral ventricle dilatation, Umbilical hernia OMIM:618914
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypothalamic hamartoma, Molar tooth si... OMIM:277170
Gangliocytoma
Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Abn... ORPHA:251937
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Rhizomelia, Cerebellar atrophy, Lateral ventricle dilatation, Postn... OMIM:611209
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation ORPHA:488627
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Short stature, Lateral ventricle dilatation OMIM:619847
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Cerebellar atrophy, Substantia nigra gliosis ORPHA:276241
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Encephalocele, Cerebellar hypoplasia, Molar tooth sign on MRI, Stillbirth, Dandy-Walk... OMIM:616300
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Meckel Syndrome, Type 1
Ventriculomegaly, Occipital encephalocele, Chiari malformation, Dilated fourth ventricle, Large p... OMIM:249000
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebellum morpholo... ORPHA:68
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Growth delay, Lateral ventricle dilatation OMIM:612301
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Colpocephaly, Hydrocephal... OMIM:620371
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:464738
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypoplasia of the pons, Hypoplasia of the brainstem, Postnatal growth retardation, Dilated fourth... OMIM:300749
Joubert Syndrome 5
Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Agenesi... OMIM:610188
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia, Abnormal dentate nucl... OMIM:619512
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Chiari malformation ORPHA:93260
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Colpocephaly ORPHA:261250
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Postnatal growth retardation... ORPHA:96148
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Colpocephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:309801
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum ORPHA:79279
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph... ORPHA:98755
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Hypothalamic atrophy, Lateral ventricle dilatation ORPHA:2822
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Colpocephaly, Alobar holoprosencephaly, Agenesis of corpus callosum OMIM:301043
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Intrauterine growth retardation, Colpocephaly, Sh... OMIM:618460
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Hypothalamic hamartoma, Molar tooth sign on MRI, Short stature, Gro... ORPHA:2754
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Dilated fourth ventricle, Molar tooth sign on MRI, Partial agenesis of t... ORPHA:434179
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal thalamus morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Zaki Syndrome
Short stature, Cerebellar vermis hypoplasia, Dilated fourth ventricle OMIM:619648
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Cerebellar vermis atrophy, Intrauterine growth retardation, Agenesis of corpu... OMIM:614866
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Cerebellar atrophy, Olivopontocerebellar atrophy OMIM:183090
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum ORPHA:58
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Noonan Syndrome 14
Short stature, Lateral ventricle dilatation OMIM:619745
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Ventriculomegaly, Lateral ventricle dilatation OMIM:619229
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Genitourinary And/Or Brain Malformation Syndrome
Chiari malformation, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Holop... OMIM:618820
Bainbridge-Ropers Syndrome
Intrauterine growth retardation, Inferior cerebellar vermis hypoplasia, Growth delay, Lateral ven... OMIM:615485
Machado-Joseph Disease
Dilated fourth ventricle, Cerebellar atrophy OMIM:109150
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Occipital encephalocele, Cerebellar hypoplasia, Molar tooth sign on... OMIM:615948
Spinocerebellar Ataxia 1
Spinocerebellar atrophy, Dilated fourth ventricle, Olivopontocerebellar atrophy OMIM:164400
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Lateral ventricle dilatation OMIM:619487
Mosaic Trisomy 1
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Agenesis of co... ORPHA:1692
Neurocardiofaciodigital Syndrome
Short stature, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Neurofibromatosis, Type I
Short stature, Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Weaver Syndrome
Cerebellar hypoplasia, Ventriculomegaly, Lateral ventricle dilatation, Umbilical hernia OMIM:277590
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Short stature, Cerebellar vermis hypoplasia, Colpocephaly OMIM:620083
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Lateral ventricle dilatation OMIM:617557
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Disproportionate short stature, Lateral ventricle dilatation, Agene... OMIM:210710
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Increased circulating prolactin concentration, Decreased response t... ORPHA:293987
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle ORPHA:261183
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short umbilical cord, Short stature, Lateral ventricle dilatation, Cerebellar atrophy OMIM:618367
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Cerebellar hypoplasia... OMIM:212065
Prader-Willi Syndrome Due To Translocation
Lateral ventricle dilatation, Decreased response to growth hormone stimulation test, Intrauterine... ORPHA:177907
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Dilated fourth ventricle OMIM:620642
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Intrauterine growth retardation, Chiari type I malformation, Colpocephaly, Hy... OMIM:270400
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar atrophy, Abnormal brainstem morphology, Intrauterine growth retardation, Cerebellar hy... OMIM:301310
Acrofacial Dysostosis 1, Nager Type
Short stature, Aqueductal stenosis, Hydrocephalus OMIM:154400
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
Charge Syndrome
Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, Aplasia/Hypoplas... ORPHA:138
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Cerebellar hypoplasia OMIM:306955
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Helsmoortel-Van Der Aa Syndrome
Ventriculomegaly, Lateral ventricle dilatation, Decreased response to growth hormone stimulation ... OMIM:615873
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebellar hypoplasia, Abnormal pons morphology, Lateral ventricle dilatation OMIM:300868
6Q Terminal Deletion Syndrome
Cerebellar hypoplasia, Colpocephaly ORPHA:75857
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Lateral ventricle dilatation OMIM:263520
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventriculomegaly, Abnormal brainstem morphology, Intrauterine growth retardation, Birth length le... ORPHA:464311
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Abnormal brainstem morphology, Panhypopitu... ORPHA:93924
Congenital Disorder Of Glycosylation, Type Iim
Cerebellar hypoplasia, Intrauterine growth retardation, Lateral ventricle dilatation OMIM:300896
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Chiari malformation, Postnatal growth retardation, Intrauterine growth retardation, Abnormal late... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Chiari malformation, Postnatal growth retardation, Intrauterine growth retardation, Abnormal late... ORPHA:353277
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Scalp-Ear-Nipple Syndrome
Short stature, Lateral ventricle dilatation OMIM:181270
Kabuki Syndrome 1
Lateral ventricle dilatation, Postnatal growth retardation, Hydrocephalus, Short stature, Growth ... OMIM:147920
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ventriculomegaly, Progressive ventriculomegaly, Chiari malformation, Lateral ventricle dilatation... ORPHA:500150
Acrofacial Dysostosis, Cincinnati Type
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Short stature, Aqueductal steno... OMIM:616462
Wilson Disease
Face of the giant panda sign OMIM:277900
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cerebellar vermis hypoplasia, Ventriculomegaly, Hypoplasia of the brainstem, Dilated fourth ventr... ORPHA:480880
Biliary, Renal, Neurologic, And Skeletal Syndrome
Lateral ventricle dilatation, Neonatal death, Hydrocephalus, Anterior pituitary hypoplasia, Short... OMIM:619534
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Growth delay, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:607872
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Enlarged cerebellum, Agenesis of corp... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Enlarged cerebellum, Agenesis of corp... ORPHA:261552

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 Uchl5

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 Uchl5.

No publications found that use IMPC mice or data for Uchl5.

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
Uchl5tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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