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
decreased locomotor activity 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
Lissencephaly 4
Short stature, Cerebellar hypoplasia, Growth delay, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220200
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem ORPHA:250972
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Cerebellar hypoplasia, Cerebellar atrophy, Growth delay, Abnormal lateral ventricle morphology, I... ORPHA:488635
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Molar tooth sign on MRI, Ventriculomegaly OMIM:617127
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Anterior hypopituitarism, Ethmoidal encephalocele... ORPHA:280195
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal cerebellum morphology, Short stature, Abnormal brainstem morphology, Cere... ORPHA:1532
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum, Short stature ORPHA:166024
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis OMIM:307000
Joubert Syndrome 30
Superior cerebellar dysplasia, Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dan... OMIM:617622
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Meckel Syndrome, Type 4
Intrauterine growth retardation, Hydrocephalus, Anencephaly, Agenesis of cerebellar vermis, Menin... OMIM:611134
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Hydranencephaly, Intrauterine growth reta... OMIM:225790
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Cerebellar hypoplasia ORPHA:401815
Joubert Syndrome 10
Growth delay, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Dilated fourth ventricle, Cerebellar hypoplasia, Molar toot... OMIM:614175
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Aqueductal stenosis, Ventriculomegaly OMIM:600907
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the pons, Midline brainstem cl... OMIM:617542
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Cerebellar vermis hypoplasia, E... OMIM:610688
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Abnormal cerebellum morphology, Occipital encephalocele... ORPHA:370959
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Agenesis of corpus callosum, Ventriculomegaly, Abnormal brainstem... ORPHA:255182
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dilatation, Cerebellar a... ORPHA:300573
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Vacterl Association With Hydrocephalus
Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... ORPHA:370022
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Cerebellar vermis... OMIM:609583
Joubert Syndrome 18
Intrauterine growth retardation, Molar tooth sign on MRI OMIM:614815
Corpus Callosum Agenesis-Neuronopathy Syndrome
Agenesis of corpus callosum, Aqueductal stenosis ORPHA:1496
Joubert Syndrome 22
Intrauterine growth retardation, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Achondroplasia
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia, Brain stem compression OMIM:100800
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Partial absence of cerebellar vermis, Agenesis of cerebe... OMIM:220220
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Agenesis of cerebellar vermis, Abnormal brainstem morphology, Cerebellar vermis hy... ORPHA:163961
Slc35A2-Cdg
Short stature, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Elevat... ORPHA:356961
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Dilated fourth ventricle, Inferior cerebellar vermis hypoplasia, Cerebellar atroph... OMIM:614831
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Cerebellar hypoplasia OMIM:618731
Cach Syndrome
Abnormal pons morphology, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem... ORPHA:135
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, En... OMIM:608629
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Aqueductal stenosis, Abnormal medulla oblongata morphology, Part... ORPHA:1136
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Rhizomelic leg shortening... ORPHA:397715
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 7
Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem OMIM:611560
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Short stature, Molar tooth sign on MRI, Hypothalamic hamartoma OMIM:277170
Halperin-Birk Syndrome
Colpocephaly, Ventriculomegaly, Umbilical hernia, Semilobar holoprosencephaly, Intrauterine growt... OMIM:618651
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Short stature, Colpocephaly, Ventriculomegaly, Intrauterine growth retardation OMIM:619833
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology ORPHA:99852
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of the cerebellar vermis, Cerebellar ... OMIM:617751
Severe X-Linked Intellectual Disability, Gustavson Type
Severe postnatal growth retardation, Dilated fourth ventricle, Cerebellar hypoplasia, Lateral ven... ORPHA:3078
Joubert Syndrome With Renal Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Agenesis of ... ORPHA:220497
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hydrocephalus, Encephalocele, Dysgenesis of the cerebella... OMIM:608091
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Cerebellar vermis atrophy, Dilated fourth ventricle OMIM:619054
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Short sta... OMIM:609053
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem ORPHA:420179
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Growth delay ORPHA:85290
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intrauterine growth retardation, Aqueductal stenosis ORPHA:3035
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Short stature, Abnormal mid... ORPHA:314621
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holoprosencephaly, Partial absence ... OMIM:619895
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar gliosis, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Ventri... ORPHA:79243
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Fusion of the left and r... OMIM:619306
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Joubert Syndrome With Ocular Defect
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Agenesis of ... ORPHA:220493
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Encephalocele ORPHA:2318
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Intrauterine growth retardation ORPHA:284417
Weiss-Kruszka Syndrome
Agenesis of corpus callosum, Colpocephaly, Ventriculomegaly OMIM:618619
Pontocerebellar Hypoplasia Type 10
Growth delay, Abnormal brainstem morphology ORPHA:411493
Acrofacial Dysostosis, Rodríguez Type
Intrauterine growth retardation, Aqueductal stenosis, Arrhinencephaly ORPHA:1788
Combined Oxidative Phosphorylation Defect Type 39
Abnormal cerebellum morphology, Cerebellar hypoplasia, Atrophy/Degeneration affecting the brainst... ORPHA:565624
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar vermis atrophy, Dilated fourth ventricle, Cerebellar atrophy, Short stature ORPHA:1170
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ventriculomegaly OMIM:617563
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Ventriculom... ORPHA:572798
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Small pituitary gland, Short stature, Infe... OMIM:619476
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:618161
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614615
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Arima Syndrome
Occipital meningocele, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Age... OMIM:243910
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Abnormal cerebellar vermis morphology, Cerebellar hypoplasia, Part... ORPHA:300570
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Ventriculo... ORPHA:370997
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... OMIM:213300
Cog5-Cdg
Short stature, Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Cerebe... ORPHA:263487
Cerebellar-Facial-Dental Syndrome
Severe short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis h... ORPHA:444072
Ataxia-Telangiectasia-Like Disorder
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar atrophy, Short stature ORPHA:251347
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Growth delay, Short stature ORPHA:208447
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Short stature OMIM:619185
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Abnormal cerebellar vermis morphology, Dilated fourth ventricle, Cere... ORPHA:357058
Galloway-Mowat Syndrome
Intrauterine growth retardation, Aqueductal stenosis, Short stature ORPHA:2065
Coach Syndrome 1
Aplasia/Hypoplasia of the cerebellar vermis, Cerebellar vermis hypoplasia, Growth delay, Encephal... OMIM:216360
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Short stature, Disproportionate short-trun... ORPHA:1855
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Anencephaly, Hydrocephalus, Molar tooth sign on MRI OMIM:616546
16P13.2 Microdeletion Syndrome
Hydrocephalus, Dilated third ventricle, Ventriculomegaly, Short stature ORPHA:500055
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Short stature, Ventriculomegaly, Colpoceph... OMIM:617260
Autosomal Dominant Non-Syndromic Intellectual Disability
Lateral ventricle dilatation, Short stature ORPHA:178469
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle OMIM:617296
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Short stature ORPHA:2720
Joubert Syndrome 39
Occipital encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619562
Joubert Syndrome 8
Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Abnormal cerebellar vermis morphology, Dys... ORPHA:544488
47,Xyy Syndrome
Hydrocephalus, Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dys... ORPHA:8
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Atrophy/Degeneration affecting the brainstem, Dilated third ventricle, Cerebellar atrophy ORPHA:314404
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Dysplastic corpus callosum, Ventriculomegaly ORPHA:488627
Pfeiffer Syndrome Type 1
Aqueductal stenosis ORPHA:93258
Khan-Khan-Katsanis Syndrome
Intrauterine growth retardation, Cerebellar vermis hypoplasia, Colpocephaly, Short stature OMIM:618460
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal pons morphology, Paucity of anterior horn motor n... ORPHA:79139
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Cerebellar dysplasia OMIM:601374
Cerebellofaciodental Syndrome
Short stature, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain, Ventric... OMIM:616202
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Chiari malformation ORPHA:93259
Gangliocytoma
Abnormality of the pituitary gland, Abnormal cerebellum morphology, Pituitary null cell adenoma, ... ORPHA:251937
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Dilated fourth ventricle, Abnormal lower motor neuron morpho... ORPHA:276244
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation ORPHA:3412
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Small pituitary gland, Dysgenesis of the cerebellar ve... OMIM:619479
Distal Monosomy 10Q
Short stature, Cerebellar hypoplasia, Spina bifida occulta, Inferior cerebellar vermis hypoplasia... ORPHA:96148
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Abnormal substantia nigra morphology, Hypothalamic atrophy ORPHA:2822
Aicardi Syndrome
Choroid plexus cyst, Dilated third ventricle, Partial agenesis of the corpus callosum, Cerebellar... OMIM:304050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cerebellar hypoplasia, Rhizomelia, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:616300
Holoprosencephaly 13, X-Linked
Colpocephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Semilobar holoprosencephaly OMIM:301043
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal hypothalamus morphology, Abnor... ORPHA:68
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Chiari type I malformation, Short stature OMIM:619575
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Short stature OMIM:309801
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecting the brainstem, Ab... ORPHA:98755
Machado-Joseph Disease Type 1
Substantia nigra gliosis, Dilated fourth ventricle, Cerebellar atrophy ORPHA:276238
Machado-Joseph Disease Type 2
Substantia nigra gliosis, Dilated fourth ventricle, Cerebellar atrophy ORPHA:276241
Meckel Syndrome, Type 1
Intrauterine growth retardation, Hydrocephalus, Occipital encephalocele, Dilated fourth ventricle... OMIM:249000
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short stature, Dilated fourth ventricle, Hypoplasia of the pons, Cerebellar hypoplasia, Postnatal... OMIM:300749
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Lateral ventricle dilatation ORPHA:293725
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Elongated superior cerebellar peduncle, Hydrocephalus, Aqueductal stenosis, Hypoplasia of the pon... OMIM:619512
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Chiari malformation ORPHA:93260
Joubert Syndrome 5
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, Thickened superior ce... OMIM:610188
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Holoprosencephaly, Chiari malformation, Colpocephaly, Agenesis of cor... OMIM:618820
Mosaic Trisomy 1
Lateral ventricle dilatation, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebell... ORPHA:1692
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Dilated fourth ventricle, Partial agenesis of the corpus callosum, Molar... ORPHA:434179
Spinocerebellar Ataxia 2
Cerebellar atrophy, Dilated fourth ventricle, Olivopontocerebellar atrophy OMIM:183090
Orofaciodigital Syndrome Type 6
Short stature, Hypothalamic hamartoma, Cerebellar vermis hypoplasia, Growth delay, Molar tooth si... ORPHA:2754
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Lateral ventricle dilatation ORPHA:457279
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal brainstem morphology, Abnormal brainstem MRI signal ... ORPHA:88619
Zaki Syndrome
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Short stature OMIM:619648
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Cerebellar hypoplasia, Meningoencephalocele, Cerebellar dysplasia, Ventriculomegal... OMIM:236670
Alexander Disease
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis ORPHA:58
Machado-Joseph Disease
Dilated fourth ventricle, Cerebellar atrophy OMIM:109150
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Spinocerebellar atrophy, Olivopontocerebellar atrophy OMIM:164400
Neurofibromatosis, Type I
Hydrocephalus, Spina bifida, Aqueductal stenosis, Short stature OMIM:162200
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Aqueductal stenosis, Short stature OMIM:154400
Smith-Lemli-Opitz Syndrome
Intrauterine growth retardation, Hydrocephalus, Holoprosencephaly, Short stature, Partial agenesi... OMIM:270400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Sh... ORPHA:293987
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Short stature, Lateral ventricle dilatatio... ORPHA:177907
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly, Enlarged cerebellum ORPHA:477993
15Q11.2 Microdeletion Syndrome
Dilated fourth ventricle ORPHA:261183
Congenital Disorder Of Glycosylation, Type Ia
Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar atrophy... OMIM:212065
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Cerebellar hypoplasia, Occipital encephalocele, Dandy-Walker malformation, Mol... OMIM:615948
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Ventriculomegaly, Abnormal brainstem morphology ORPHA:70474
6Q Terminal Deletion Syndrome
Colpocephaly, Cerebellar hypoplasia ORPHA:75857
Charge Syndrome
Aqueductal stenosis, Holoprosencephaly, Short stature, Anterior hypopituitarism, Aplasia/Hypoplas... ORPHA:138
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Short stature, Abnormal lateral ventricle morphology, Chiari malformation, Postnatal growth retar... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Short stature, Abnormal lateral ventricle morphology, Chiari malformation, Postnatal growth retar... ORPHA:353277
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Cerebellar hypoplasia, Hydrocephalus, Aqueductal stenosis OMIM:306955
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Birth length less than 3rd percentile, Abnormal brainstem morphology, Posterior pituitary hypopla... ORPHA:464311
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive ventriculomegaly, Lateral ventricle dilatation, Chiari ma... ORPHA:500150
Semilobar Holoprosencephaly
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Panhypopitui... ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Panhypopitui... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Panhypopitui... ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Decreased response to growth hormone stimulation test, Short stature, Panhypopitui... ORPHA:93924
Wilson Disease
Face of the giant panda sign OMIM:277900
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Neurocardiofaciodigital Syndrome
Cerebellar vermis hypoplasia, Dilated fourth ventricle, Short stature OMIM:619869
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Short stature, Dilated fourth ventricle, Aplasia/Hypoplasia of the cerebellum, Cerebellar hypopla... ORPHA:480880
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Aqueductal stenosis, Short stature, Neonatal death, Anterior pituitary hypoplasia OMIM:619534
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Short stature, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Lateral ventricle dilatation... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Short stature, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Lateral ventricle dilatation... 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

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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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