Gene Summary

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

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
hypoactivity Uchl5tm1(NCOM)Mfgc HET   Early adult 4.29×10-07
preweaning lethality, complete penetrance Uchl5tm1(NCOM)Mfgc HOM   Early adult 0.00

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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
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia OMIM:614173
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220200
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dyspla... OMIM:615763
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Hydrocephalus OMIM:614120
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Agenesis o... ORPHA:250972
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atroph... OMIM:617862
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Growth delay, Cerebellar hypoplasia, Cerebellar atrophy, Intra... ORPHA:488635
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral atrophy, Short stature OMIM:616192
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology, Shor... ORPHA:1532
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Dilation of lateral ventricles, Aplasia/Hypoplasia of... OMIM:300864
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy,... ORPHA:77299
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Agenesis of cerebellar vermis, Meningocele, Intra... OMIM:611134
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superio... OMIM:617622
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, Dilat... OMIM:618736
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Midl... OMIM:617542
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly, Cerebellar hypoplasia, Hydranenceph... OMIM:225790
Joubert Syndrome 22
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Intr... OMIM:615665
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Colpocephaly ORPHA:401815
Joubert Syndrome 10
Growth delay, Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Abnormal cerebral white matter morphology, Ce... ORPHA:352682
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal brainste... ORPHA:99852
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Hypoplasia of the brainstem, Type II lissencephaly, Hydroceph... ORPHA:370959
Slc35A2-Cdg
Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, A... ORPHA:356961
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Ventriculomegaly, Aqueductal stenosis OMIM:600907
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Achondroplasia
Brain stem compression, Rhizomelia, Megalencephaly, Hydrocephalus, Neonatal short-limb short stature OMIM:100800
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220219
Pontocerebellar Hypoplasia Type 10
Growth delay, Simplified gyral pattern, Abnormal brainstem morphology, Abnormal cerebral cortex m... ORPHA:411493
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Agenesis of cerebe... ORPHA:163961
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI, Abnormal cerebellum morphology OMIM:617757
Dandy-Walker Malformation With Postaxial Polydactyly
Posterior fossa cyst at the fourth ventricle, Partial absence of cerebellar vermis, Dilated fourt... OMIM:220220
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Cerebellar cyst, Hypoplasia o... ORPHA:79243
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly OMIM:614175
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar pe... ORPHA:370022
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Simplified gyral pattern, Communicating hydrocephalus, Lissencephaly OMIM:615219
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Vacterl Association With Hydrocephalus
Stillbirth, Hydrocephalus, Aqueductal stenosis OMIM:276950
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Corpus Callosum Agenesis-Neuronopathy Syndrome
Microcephaly, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Joubert Syndrome 18
Intrauterine growth retardation, Molar tooth sign on MRI OMIM:614815
Joubert Syndrome 9
Ventriculomegaly, Molar tooth sign on MRI OMIM:612285
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Enlarge... OMIM:608091
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormal lateral ventricle morphology, ... OMIM:615280
Cach Syndrome
T2 hypointense thalamus, Growth delay, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration... ORPHA:135
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Arnold-Chiari Malformation Type Ii
Hydrocephalus, Brain stem compression, Ventriculomegaly, Aqueductal stenosis, Meningocele, Polymi... ORPHA:1136
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Cerebellar cyst, Cerebellar vermis hypoplasia, ... OMIM:615960
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brains... OMIM:611560
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, En... OMIM:608629
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebral white matter hypoplasia... ORPHA:284417
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebel... ORPHA:397715
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Cerebellar hypoplasia, Colpocephaly OMIM:618731
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Postnatal growth retardation, Hypoplasia of t... ORPHA:300570
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Enlarged fossa interpeduncu... OMIM:610688
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Cerebral calcification, Aqueductal stenosis ORPHA:3035
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Short stature OMIM:277170
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Cerebellar vermis hypoplasia, Microce... OMIM:618606
Spinocerebellar Ataxia, Autosomal Recessive 13
Retrocerebellar cyst, Dilated fourth ventricle, Cerebellar atrophy, Inferior vermis hypoplasia, S... OMIM:614831
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar vermis hypoplasi... ORPHA:370997
Adult Krabbe Disease
Abnormal corpus callosum morphology, Abnormality of the medulla oblongata, Abnormal pons morpholo... ORPHA:206448
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Cerebellar Purkinje layer atrophy, Olivopontocerebellar hypoplasia... ORPHA:98756
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, G... ORPHA:208447
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Rhombencephalosynapsis, Hypoplasia of the corpus callosum, Fusion of... OMIM:619306
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Aprosencephaly, Absent mesencephalon OMIM:601374
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Short stature, Arnold-Chiari malformation, Intrauterine g... OMIM:609053
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis atrophy, Short stature, Diffuse c... ORPHA:1170
Joubert Syndrome 1
Hypoplasia of the brainstem, Brainstem dysplasia, Cerebellar vermis hypoplasia, Enlarged fossa in... OMIM:213300
Severe X-Linked Intellectual Disability, Gustavson Type
Cerebellar hypoplasia, Dilation of lateral ventricles, Dilated fourth ventricle, Microcephaly, Se... ORPHA:3078
Wars2-Related Combined Oxidative Phosphorylation Defect
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Ventriculomegaly, ... ORPHA:572798
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplasia of the brainstem, Dilation of lat... ORPHA:420179
Congenital Disorder Of Glycosylation, Type Iii
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Short stature... OMIM:613612
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Dilated fourth ventricle, Cerebellar vermis atrophy OMIM:619054
Acrofacial Dysostosis, Rodríguez Type
Intrauterine growth retardation, Arrhinencephaly, Aqueductal stenosis ORPHA:1788
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Colpocephaly, Ventriculomegaly, Umbilical hernia, Intrauterine growt... OMIM:618651
Joubert Syndrome With Renal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Polymicrogyria, Molar tooth sign on MRI, Agenesis of... ORPHA:220497
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Growth delay, Dilation of lateral ventricles ORPHA:85290
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Neonatal death, Subependymal cysts, Dilation of lateral ventri... OMIM:610015
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, Ven... ORPHA:444072
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Ventriculomegaly, Aqueductal stenosis OMIM:600906
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:2318
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Galloway-Mowat Syndrome
Pachygyria, Aqueductal stenosis, Short stature, Intrauterine growth retardation, Microcephaly ORPHA:2065
16P13.2 Microdeletion Syndrome
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Periventricul... ORPHA:500055
Cog5-Cdg
Cerebral white matter atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, ... ORPHA:263487
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia OMIM:618161
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Polymicrogyria, Molar tooth sign on MRI, Agenesis of... ORPHA:220493
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Orofaciodigital Syndrome Xvi
Ventriculomegaly, Molar tooth sign on MRI OMIM:617563
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal midbrain morphology, Abnormal hypothalamus morpholog... ORPHA:314621
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Abnormal cerebral white matter morphology, Cerebral atrophy, Cerebellar atrophy, Atrophy/Degenera... ORPHA:314404
Arima Syndrome
Hypoplasia of the brainstem, Brainstem dysplasia, Occipital meningocele, Agenesis of cerebellar v... OMIM:243910
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Anencephaly, Polymicrogyria, Molar tooth sign on MRI, Hydrocephalus OMIM:616546
Joubert Syndrome 17
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614615
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Abnormal brainstem morphol... ORPHA:2720
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar malformation, Pachygyria, Thick cerebral cortex, Cerebellar vermis hypoplasia, Postnat... ORPHA:357058
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles, Cerebral cor... ORPHA:488627
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Abnormal hypothalamus morphology, Abnormal midbrain morp... ORPHA:68
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Ataxia-Telangiectasia-Like Disorder
Dilated fourth ventricle, Cerebellar atrophy, Cerebellar vermis hypoplasia, Short stature ORPHA:251347
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Cerebellar vermis hypopla... OMIM:304050
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Disproportionate short-trunk ... ORPHA:1855
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Short stature, Microcephaly, Agenesis of c... OMIM:309801
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Dilated fourth ventr... ORPHA:276244
47,Xyy Syndrome
Increased circulating gonadotropin level, Cerebellar dysplasia, Abnormal brainstem morphology, Dy... ORPHA:8
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem m... ORPHA:88619
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus ORPHA:3412
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Umbilical hernia, Dilation of lateral ventricles OMIM:618914
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Machado-Joseph Disease Type 1
Dilated fourth ventricle, Degeneration of the striatum, Substantia nigra gliosis, Cerebellar atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Dilated fourth ventricle, Degeneration of the striatum, Substantia nigra gliosis, Cerebellar atrophy ORPHA:276241
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d... OMIM:301043
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Cerebellar hypoplasia, Postnatal growth retardation, Dilated fourth ventricle, Abnormal cortical ... OMIM:300749
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Alkuraya-Kucinskas Syndrome
Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebel... OMIM:617822
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis, Arnold-Chiari malformation ORPHA:93259
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Distal Monosomy 10Q
Cavum septum pellucidum, Cerebellar hypoplasia, Postnatal growth retardation, Inferior vermis hyp... ORPHA:96148
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Short stature, Intrauterine growth retardation, Microcephaly, Colpo... OMIM:618460
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Dilated third ventr... ORPHA:464738
Coach Syndrome 1
Growth delay, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the ce... OMIM:216360
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Spinocerebellar Ataxia Type 1
Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cells in the cerebellar vermis, Ab... ORPHA:98755
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Molar tooth... ORPHA:434179
Genitourinary And/Or Brain Malformation Syndrome
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Dysplastic corpus callo... OMIM:618820
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Familial Cerebral Saccular Aneurysm
Encephalomalacia, Abnormal brainstem morphology ORPHA:231160
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Growth delay, Cerebellar vermi... ORPHA:2754
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Cerebellar malformation, Pachygyria, Type II lissencephaly, Hydrocep... OMIM:236670
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Abnormal cerebral white matter morp... ORPHA:457279
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle, Microcephaly, Thick cerebral cortex ORPHA:261183
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Arnold-Chiari malformation ORPHA:93260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:616300
Alexander Disease
Hydrocephalus, Megalencephaly, Aqueductal stenosis, Cerebral calcification, Agenesis of corpus ca... ORPHA:58
Kohlschutter-Tonz Syndrome-Like
Ventriculomegaly, Intrauterine growth retardation, Secondary microcephaly, Microcephaly, Dilation... OMIM:619229
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum,... ORPHA:1692
Spinocerebellar Ataxia 2
Dilated fourth ventricle, Olivopontocerebellar atrophy OMIM:183090
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Polymicrogyria, Short stature, Microcephaly, Hydrocephalus OMIM:154400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Abnormal midbrain morphology, Adrenocorticotropic hormone deficiency, De... ORPHA:293987
Machado-Joseph Disease
Dilated fourth ventricle, Cerebellar atrophy OMIM:109150
Joubert Syndrome 8
Molar tooth sign on MRI OMIM:612291
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Polymicrogyria, Simp... OMIM:615948
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Olivopontocerebellar atrophy, Spinocerebellar atrophy OMIM:164400
Neurofibromatosis, Type I
Short stature, Spina bifida, Hydrocephalus, Aqueductal stenosis OMIM:162200
6Q Terminal Deletion Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebellar hypoplas... ORPHA:75857
Joubert Syndrome 5
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebe... OMIM:610188
Weaver Syndrome
Umbilical hernia, Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia, Enlarged cereb... ORPHA:477993
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Cerebral cortical atrophy, Short stature, Intrauterine growth reta... ORPHA:177907
Charge Syndrome
Aplasia/Hypoplasia of the cerebellum, Holoprosencephaly, Aqueductal stenosis, Postnatal growth re... ORPHA:138
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypoplasia, Intrauterine growth r... OMIM:300896
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Birth length less... ORPHA:464311
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Pachygyria, Dilation of lateral ventricles OMIM:263520
Semilobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Growth delay, Abnormal hypothalamus physiology, Neural tube de... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Growth delay, Abnormal hypothalamus physiology, Neural tube de... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Growth delay, Abnormal hypothalamus physiology, Neural tube de... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Hydrocephalus, Growth delay, Abnormal hypothalamus physiology, Neural tube de... ORPHA:93924
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Arnold-Chiari malformation, Proportionate short stature, Hypoplasia... ORPHA:500150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Arnold-Chiari type I malformation, Postnatal growth retardation, Abnormal corpus callosum morphol... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Arnold-Chiari type I malformation, Postnatal growth retardation, Abnormal corpus callosum morphol... ORPHA:353277
Fragile X-Associated Tremor/Ataxia Syndrome
Cerebral cortical atrophy, Abnormal brainstem morphology, Diffuse cerebellar atrophy ORPHA:93256
Genitopatellar Syndrome
Microcephaly, Agenesis of corpus callosum, Colpocephaly OMIM:606170
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplasia of the brainstem, Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the corpus callo... ORPHA:480880
Chromosome 1P36 Deletion Syndrome
Pachygyria, Hydrocephalus, Hypoplasia of the corpus callosum, Growth delay, Cerebral cortical atr... OMIM:607872
Choreoacanthocytosis
Frontal cortical atrophy, Hypoplastic hippocampus, Cerebral cortical atrophy, Abnormal hippocampu... ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Arnold-Chiari type I malformatio... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Arnold-Chiari type I malformatio... 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.

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

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