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Gene: Uchl5 MGI:1914848

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

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 4.29×10-07

Download data as:  TSV  XLS

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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
Short stature, Growth delay, Colpocephaly, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:614019
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Agenesis of cerebellar vermis, Partial absence of cerebe... OMIM:220200
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar atrophy, Abnormal lateral ventricle morphology, Growth delay, Cerebellar hypoplasia, I... ORPHA:488635
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Partial agen... OMIM:615771
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Short stature, Abnormal cerebellum morphology, Hydrocephalus, Abnor... ORPHA:1532
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Rhombencephalosynapsis, Anterior hypopituit... ORPHA:280195
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum OMIM:619111
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum, Short stature ORPHA:166024
Joubert Syndrome 30
Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Superior cerebellar dysplasia, Dan... OMIM:617622
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Meckel Syndrome 13
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia OMIM:617562
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot... OMIM:611134
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, H... OMIM:617967
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, C... OMIM:613154
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... OMIM:618736
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Growth delay OMIM:300804
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Molar tooth sign on MRI, Intrauterine gro... OMIM:614815
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft, Fusion of the left and right thal... OMIM:617542
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Pontocerebellar Hypoplasia, Type 1A
Hypoplasia of the pons, Degeneration of anterior horn cells, Hypoplasia of the ventral pons, Late... OMIM:607596
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla... OMIM:610688
Meckel Syndrome, Type 10
Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot... OMIM:614175
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Olivopon... ORPHA:370959
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... ORPHA:300573
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly OMIM:616034
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainstem morphology, Ventr... ORPHA:255182
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Hypoplasia ... OMIM:617751
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Mol... OMIM:608629
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal brainstem morphology, ... ORPHA:370022
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... OMIM:609583
Martsolf Syndrome 2
Lateral ventricle dilatation, Short stature OMIM:619420
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
Joubert Syndrome 22
Molar tooth sign on MRI, Intrauterine growth retardation, Agenesis of cerebellar vermis OMIM:615665
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation OMIM:615889
Cach Syndrome
Cerebellar atrophy, T2 hypointense thalamus, Growth delay, Lateral ventricle dilatation, Abnormal... ORPHA:135
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Hydrocephalus, Partial absence of cerebe... OMIM:220220
Craniosynostosis 6
Cerebellar atrophy, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callos... OMIM:616602
Slc35A2-Cdg
Cerebellar atrophy, Short stature, Abnormal midbrain morphology, Lateral ventricle dilatation, At... ORPHA:356961
Spinocerebellar Ataxia, Autosomal Recessive 13
Dilated fourth ventricle, Cerebellar atrophy, Short stature, Retrocerebellar cyst, Inferior cereb... OMIM:614831
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Abnormal brainstem mo... ORPHA:163961
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Joubert Syndrome 15
Molar tooth sign on MRI, Exencephaly OMIM:614464
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Partial agene... ORPHA:171680
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Short stature, Cerebellar hypoplasia, Cerebellar vermis atrophy OMIM:213200
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation, Short stature OMIM:618330
Joubert Syndrome 14
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening... OMIM:614424
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Dandy-Walker malformation, Cerebellar vermis hypoplasia, Short stature, ... ORPHA:397715
Joubert Syndrome 7
Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia OMIM:611560
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia OMIM:618731
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Brainstem dysplas... OMIM:608091
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Abnormal dentate nucleus m... OMIM:619517
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Abnormal tha... ORPHA:467166
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy OMIM:619054
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of ... ORPHA:220497
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar gliosis, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Intrau... ORPHA:79243
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia OMIM:615960
Joubert Syndrome 32
Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Adams-Oliver Syndrome 2
Retrocerebellar cyst, Hydrocephalus, Cerebellar hypoplasia, Lateral ventricle dilatation OMIM:614219
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Lateral ventricle dilatation, Cerebellar vermis hypoplasia ORPHA:284417
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Intrauterine growth retardation ORPHA:3035
Holoprosencephaly 14
Cerebellar atrophy, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial absence... OMIM:619895
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Ventriculomegaly OMIM:619833
Halperin-Birk Syndrome
Colpocephaly, Umbilical hernia, Intrauterine growth retardation, Agenesis of corpus callosum, Ven... OMIM:618651
Duplication Of The Pituitary Gland
Encephalocele, Short stature, Abnormal midbrain morphology, Abnormal pituitary gland morphology, ... ORPHA:314621
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Dandy-Walker ... OMIM:618606
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Cerebellar h... OMIM:619306
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Growth delay, Lateral ventricle dilatation OMIM:615716
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Severe postnatal growth retardation, Lateral ventricle dilatation, Cere... ORPHA:3078
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Spina bifida o... OMIM:618291
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of ... ORPHA:220493
X-Linked Intellectual Disability, Wilson Type
Growth delay, Lateral ventricle dilatation ORPHA:85290
Joubert Syndrome 38
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Short stature, Decreased response to g... OMIM:619476
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem ORPHA:420179
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Lateral ventricle dilatation OMIM:221770
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2318
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the... OMIM:615574
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar atrophy, Short stature, Cerebellar vermis atrophy ORPHA:1170
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Intrauterine growth retardation ORPHA:1788
Pontocerebellar Hypoplasia Type 10
Growth delay, Abnormal brainstem morphology ORPHA:411493
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Chiari malfor... OMIM:609053
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Pettigrew Syndrome
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Vent... OMIM:304340
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Glutamine Deficiency, Congenital
Neonatal death, Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ventriculomegaly OMIM:617563
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Joubert Syndrome 1
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Br... OMIM:213300
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Bilateral Generalized Polymicrogyria
Growth delay, Lateral ventricle dilatation, Short stature ORPHA:208447
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot... OMIM:616546
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Lateral ventricle dilatation, Cerebellar hypoplasia, Atrophy/Dege... ORPHA:565624
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal pons morphology, Ventriculo... ORPHA:370997
Giant Axonal Neuropathy 1, Autosomal Recessive
Abnormal cerebellum morphology, Lateral ventricle dilatation OMIM:256850
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Hypo... ORPHA:444072
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Spinocerebellar Ataxia, Autosomal Recessive 33
Dilated fourth ventricle, Cerebellar hypoplasia OMIM:620208
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Lateral ventricle dil... ORPHA:572798
Joubert Syndrome 37
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature OMIM:619185
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Galloway-Mowat Syndrome
Aqueductal stenosis, Intrauterine growth retardation, Short stature ORPHA:2065
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar atrophy, Short stature ORPHA:251347
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Postnatal growth retardation, Dysplastic ... ORPHA:357058
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis, Small pituitary gland, Disprop... 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
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Colpocephal... OMIM:620113
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Cerebellar vermis hypoplasia, Postnatal growth retardation, Partial agenesis of the corpus callos... ORPHA:300570
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the c... OMIM:216360
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Cog5-Cdg
Cerebellar atrophy, Short stature, Lateral ventricle dilatation, Atrophy/Degeneration affecting t... ORPHA:263487
Chromosome 6Q24-Q25 Deletion Syndrome
Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine growth retardation, Agene... OMIM:612863
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Short stature, Ventriculomegaly ORPHA:500055
Joubert Syndrome 39
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia OMIM:619562
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short stature, Hydrocephalus, Chiari type I malformation, Lateral ventricle dilatation, Dilated t... OMIM:619575
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Intrauterine growth retardation, Neonatal death OMIM:251230
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Short stature OMIM:619995
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:617397
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Joubert Syndrome 8
Molar tooth sign on MRI, Occipital encephalocele OMIM:612291
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle, Abnormal cereb... ORPHA:544488
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Short stature, Decreased response to growth hormone stimul... ORPHA:1855
47,Xyy Syndrome
Increased circulating gonadotropin level, Hydrocephalus, Abnormal brainstem morphology, Dysgenesi... ORPHA:8
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Paucity of anterior horn moto... ORPHA:79139
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormal brainstem morphology, Short stature ORPHA:2720
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Postnatal growth retardation, Partial agenesis of the... OMIM:304050
Neurooculorenal Syndrome
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the... OMIM:620305
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Chiari malformation ORPHA:93259
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Dilated third ventricle, Atrophy/Degeneration affecting the brainstem ORPHA:314404
Cerebellofaciodental Syndrome
Short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain, Ventric... OMIM:616202
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis of c... OMIM:617260
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Abnormal lower motor neuron morphology, Cerebellar atrophy, Substantia ... ORPHA:276244
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Short stature, Hypothalamic hamartoma, Molar tooth sign on MRI, Occ... OMIM:277170
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... ORPHA:251937
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Lateral ventricle dilatation OMIM:618914
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar atrophy, Cerebellar vermis hypoplasia, Rhizomelia, Short stature, Postnatal growth ret... OMIM:611209
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Short stature OMIM:619847
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Rhizomelia, Stillbirth, Cerebellar hypoplasia, Molar tooth sign on MRI, Dandy-Walk... OMIM:616300
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Substantia nigra gliosis, Cerebellar atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Substantia nigra gliosis, Cerebellar atrophy ORPHA:276241
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Ch... OMIM:249000
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... ORPHA:98755
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Short stature, Hypoplasia of the pons, Postnatal growth retardation, Hy... OMIM:300749
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Distal Deletion 10Q
Short stature, Postnatal growth retardation, Lateral ventricle dilatation, Cerebellar hypoplasia,... ORPHA:96148
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos... OMIM:619512
Joubert Syndrome 5
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... OMIM:610188
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Short stature, Agenesis of corpus callosum, Colpocephaly OMIM:309801
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Chiari malformation ORPHA:93260
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation, Abnormal substantia nigra morphology ORPHA:2822
Holoprosencephaly 13, X-Linked
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Short stature, Colpocephaly, Intrauterine growth retardation, Ventr... OMIM:618460
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Short stature, Growth delay, Hypothalamic hamartoma, Molar tooth si... ORPHA:2754
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Molar tooth sign on MRI, Dilat... ORPHA:434179
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Zaki Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature OMIM:619648
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal thalamus morphology, Abnormal brainstem morphology ORPHA:88619
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Colpocephaly, Cerebellar hypoplasia, Intrauterine growth retardation, Agenesi... 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
Lateral ventricle dilatation, Short stature OMIM:619745
Den Hoed-De Boer-Voisin Syndrome
Intrauterine growth retardation, Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:300952
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Chiari malformation, Holoprosencephaly, Agenesis of cor... OMIM:618820
Bainbridge-Ropers Syndrome
Growth delay, Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Intrauterine g... OMIM:615485
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, H... OMIM:615948
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Lateral ventricle dilatation OMIM:619487
Machado-Joseph Disease
Dilated fourth ventricle, Cerebellar atrophy OMIM:109150
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Olivopontocerebellar atrophy, Spinocerebellar atrophy OMIM:164400
Mosaic Trisomy 1
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebell... ORPHA:1692
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Cerebellar vermis hypoplasia, Short stature OMIM:620083
Weaver Syndrome
Umbilical hernia, Lateral ventricle dilatation, Cerebellar hypoplasia, Ventriculomegaly OMIM:277590
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Lateral ventricle dilatation OMIM:617557
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Short stature OMIM:619869
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Partial agenesis of t... OMIM:210710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Lateral ventricle dilatation, Short stature, Short umbilical cord OMIM:618367
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle ORPHA:261183
Prader-Willi Syndrome Due To Translocation
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177907
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Abnormal midbrain morphology, Decreased response to growth hormone stimulation tes... ORPHA:293987
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Olivopontocerebellar ... OMIM:212065
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Short stature, Hydrocephalus, Partial agenesis of the corpus callosum, Chiari... OMIM:270400
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Short stature OMIM:154400
Charge Syndrome
Short stature, Aqueductal stenosis, Postnatal growth retardation, Holoprosencephaly, Delayed pube... ORPHA:138
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia OMIM:306955
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Abnormal pons morphology, Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:300868
Helsmoortel-Van Der Aa Syndrome
Short stature, Decreased response to growth hormone stimulation test, Pineal cyst, Lateral ventri... OMIM:615873
6Q Terminal Deletion Syndrome
Colpocephaly, Cerebellar hypoplasia ORPHA:75857
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Cerebellar vermis hypoplasia OMIM:263520
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal brainstem morphology, Birth length less than 3rd percentile, Posterior pituitary hypopla... ORPHA:464311
Congenital Disorder Of Glycosylation, Type Iim
Intrauterine growth retardation, Lateral ventricle dilatation, Cerebellar hypoplasia OMIM:300896
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Short stature, Postnatal growth retardation, Chiari type I... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Short stature, Postnatal growth retardation, Chiari type I... ORPHA:353277
Semilobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal bra... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal bra... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal bra... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Abnormal bra... ORPHA:93924
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Wilson Disease
Face of the giant panda sign OMIM:277900
Scalp-Ear-Nipple Syndrome
Lateral ventricle dilatation, Short stature OMIM:181270
Kabuki Syndrome 1
Short stature, Postnatal growth retardation, Hydrocephalus, Growth delay, Lateral ventricle dilat... OMIM:147920
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Proportionate short stature, Dysplastic corpus callosum, Lateral ventricle dilatation, Chiari mal... ORPHA:500150
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Lateral ventric... OMIM:619534
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Short stature, Hypoplasia of the brainste... ORPHA:480880
Chromosome 1P36 Deletion Syndrome, Distal
Growth delay, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation 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
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Short stature, Chiari type I malform... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Short stature, Chiari type I malform... 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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