Gene: Relch MGI:1922832

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Gene Summary

Name:
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing
Synonyms:
2310035C23Rik

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 exploration in new environment Relchem1(IMPC)J HOM Early adult 5.38×10-05
hyperactivity Relchem1(IMPC)J HOM Early adult 1.44×10-07
abnormal auditory brainstem response Relchem1(IMPC)J HOM   Early adult 1.51×10-10
decreased startle reflex Relchem1(IMPC)J HOM Early adult 7.19×10-07
abnormal vocalization Relchem1(IMPC)J HOM Early adult 1.57×10-06
increased vertical activity Relchem1(IMPC)J HOM Early adult 5.66×10-05

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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.

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Relch 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 Relch by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder, EEG with centrotemporal focal spike waves OMIM:245570
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Developmental And Epileptic Encephalopathy 56
Ataxia, EEG abnormality, Anxiety, Attention deficit hyperactivity disorder, Broad-based gait OMIM:617665
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Emotional lability, Anxiety, Cognitive impairment, Atten... ORPHA:280397
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, X-Linked 109
Aggressive behavior, Hyperactivity OMIM:309548
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Immunodeficiency 8
Hyperactivity OMIM:615401
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity ORPHA:436151
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Tremor, Dementia, Prelingu... ORPHA:52368
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Hyperprolinemia, Type I
EEG abnormality, Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy OMIM:300983
Intellectual Developmental Disorder, X-Linked 101
Macrotia, Hyperactivity OMIM:300928
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Ataxia, Hyperactivity, Mental deterioration OMIM:615924
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention deficit hyperacti... OMIM:619191
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Irritability, Abnormal fear/anxiet... ORPHA:3077
Lennox-Gastaut Syndrome
Aggressive behavior, EEG with focal sharp slow waves, Falls, EEG abnormality, Hyperactivity, Ment... ORPHA:2382
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Dementia, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory e... OMIM:607876
Spinocerebellar Ataxia 14
Gait ataxia, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Memory impairment, Mental ... OMIM:605361
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Aggressive behavior, Hyperactivity OMIM:248510
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Gait ataxia, Interictal EEG abnormality, Aggressive behavior, EEG ... ORPHA:98818
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Agg... ORPHA:228360
Glycine Encephalopathy
Lethargy, Irritability, Aggressive behavior, Hyperactivity OMIM:605899
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Intellectual Developmental Disorder, X-Linked 107
Macrotia, Hyperactivity OMIM:301013
Sotos Syndrome 3
Hyperactivity OMIM:617169
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Cognitive Impairment With Or Without Cerebellar Ataxia
Ataxia, Emotional lability, Optic nerve hypoplasia, Dysmetria, Cognitive impairment, Attention de... OMIM:614306
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabilit... ORPHA:248111
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Aggressive behavior, Hyperactivity OMIM:604317
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Fraxe Intellectual Disability
Prominent ear helix, Aggressive behavior, Hyperactivity ORPHA:100973
Mental Retardation, Autosomal Recessive 39
Macrotia, Aggressive behavior, Hyperactivity OMIM:615541
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Macrotia, Posteriorly rotated ears, Anxiety, Hyperactivity OMIM:609425
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, EEG with focal epileptiform discharges, Emotional lability, Inte... ORPHA:1929
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Macrotia, Aggressive behavior, Hyperactivity OMIM:300558
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, EEG abnormality, Hyperactivity OMIM:618718
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... ORPHA:369873
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, EEG abnormality, Anxiety, Hyperactivity OMIM:271980
Phenylketonuria
Self-mutilation, Aggressive behavior, Irritability, Anxiety, Hyperactivity, Attention deficit hyp... OMIM:261600
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Mental Retardation, Autosomal Dominant 43
Anxiety, Hyperactivity OMIM:616977
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Ataxia, EEG abnormality, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Tremor, Gait ataxia, Autonomic bladder dysfunction, Dementia, Orthostatic hyp... ORPHA:99027
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hypsarrhythmia, EEG with focal epileptiform discharges, Multifocal epileptiform dischar... ORPHA:88616
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, EEG abnormality, Aggressive behavior, Hyperactivity OMIM:617773
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Optic atrophy, Hyperactivity OMIM:274270
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Ataxia, Interictal epileptiform activity, EEG with poly... ORPHA:1942
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, Aggressive beh... ORPHA:168491
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Aggressive behavior, Hyperactivity OMIM:618342
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Head tremor, Limb ataxia, Unsteady gait, Sensorineural hearing im... ORPHA:101085
Adult Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Gait distur... ORPHA:206448
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Cognitiv... ORPHA:309246
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, EEG abnormality, Hyperactivity ORPHA:500180
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Ck Syndrome
Posteriorly rotated ears, Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Pitt-Hopkins-Like Syndrome 1
Progressive language deterioration, Aggressive behavior, Ataxia, EEG abnormality, Hyperactivity OMIM:610042
Ck Syndrome
Posteriorly rotated ears, Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Ataxia, Progressive psychomotor deterioration, Limb dystonia, Hyperactivity,... ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Infantile Neuroaxonal Dystrophy
Dystonia, Psychomotor deterioration, Gait disturbance, Abnormal autonomic nervous system physiolo... ORPHA:35069
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Aggressive behavior, Hyperactivity ORPHA:369939
Clcn4-Related X-Linked Intellectual Disability Syndrome
Aggressive behavior, Self-injurious behavior, Progressive cerebellar ataxia, Unsteady gait, Anxie... ORPHA:485350
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Hyperphosphatasia With Mental Retardation Syndrome 6
Thickened helices, Aggressive behavior, EEG with multifocal slow activity, Hyperactivity, Large e... OMIM:616809
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Intention tremor, Bradykinesia, Emotional lability, Dy... OMIM:610217
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Torticollis, Oculogyric crisis, Irritab... OMIM:608643
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Aggressive behavior, Hyperactivity ORPHA:101039
Gm2-Gangliosidosis, Ab Variant
Apathy, Dystonia, Dementia, Exaggerated startle response OMIM:272750
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hypsarrhythmia, Hyperactivity OMIM:619239
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
X-Linked Adrenoleukodystrophy
Aggressive behavior, Dementia, Gait disturbance, Hyperactivity, Cognitive impairment, Progressive... ORPHA:43
Coffin-Siris Syndrome 7
Posteriorly rotated ears, Hearing impairment, Macrotia, Hyperactivity OMIM:618027
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Abnormality of the pinna, Hyperactivity, Mood swings OMIM:300354
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Cerebrotendinous Xanthomatosis
Dystonia, Aggressive behavior, Gait disturbance, Resting tremor, Ataxia, Abnormal motor evoked po... ORPHA:909
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Infantile Krabbe Disease
Progressive neurologic deterioration, Prolonged brainstem auditory evoked potentials, Psychomotor... ORPHA:206436
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response, Ataxia OMIM:618598
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Aganglionic megacolon, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Mental Retardation, Autosomal Dominant 7
Thickened helices, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, Hyperactivity, H... OMIM:614104
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
Gand Syndrome
Hyperactivity OMIM:615074
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Ataxia, Happy demeanor, EEG abnormality, EEG with abnormally slow frequencies, Hyperactiv... ORPHA:98794
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Ataxia OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Hearing impairment, Aggressive behavior, Hyperactivity OMIM:252920
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Macrotia, Ataxia, Hyperactivity OMIM:300912
Smith-Magenis Syndrome
Self-mutilation, Morphological abnormality of the middle ear, Head-banging, Hearing impairment, E... OMIM:182290
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Sensorineural hearing impairment, Aggressive behavior, Hyperactivity OMIM:600430
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Macrotia, Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Gait ataxia, Aggressive behavior, Opisthotonus, Hyperactivity... OMIM:103050
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Cockayne Syndrome Type 1
Tremor, Macrotia, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Absent brains... ORPHA:90321
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity OMIM:300143
Fragile X Syndrome
Macrotia, Hyperactivity OMIM:300624
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Ataxia, Abnormal autono... OMIM:609136
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Low-set, posteriorly rotated ears, Aggressive behavior, Self-biting ORPHA:3306
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Ataxia, Posteriorly rotated ears, Hyperactivity, Cognitive impairment OMIM:601853
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Macrotia, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, Att... ORPHA:449291
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Atte... ORPHA:73272
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Abnormality of the pinna, Hearing impai... OMIM:123450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait ORPHA:438216
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Gait disturbance, Laryngeal dystonia, Exaggerated startle re... ORPHA:845
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Dysmetria, H... ORPHA:139396
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous s... OMIM:256800
Cockayne Syndrome A
Tremor, Dementia, Gait disturbance, Abnormality of the pinna, Ataxia, Sensorineural hearing impai... OMIM:216400
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hearing impairment, Hyperactivity ORPHA:412035
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Microtia, Hyperactivity OMIM:618089
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Macrotia, Ataxia, Multifocal epileptiform discharges, Hearing impairment, EE... ORPHA:369891
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Ataxia, Posteriorly rotated ears, Anxiety, Hyperactivity OMIM:618430
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Motor deterioration, Hyperactivity OMIM:252930
Angelman Syndrome
Inability to walk, Tremor, Aggressive behavior, Self-injurious behavior, Ataxia, Optic disc pallo... ORPHA:72
Lamb-Shaffer Syndrome
Optic atrophy, Ataxia, Hyperactivity ORPHA:530983
Angelman Syndrome
Progressive gait ataxia, Limb tremor, EEG abnormality, Hyperactivity, Broad-based gait OMIM:105830
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Akinesia, Dementia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hype... OMIM:234200
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Agoraphobia, Anxiety OMIM:184850
X-Linked Intellectual Disability, Cabezas Type
Tremor, Aggressive behavior, EEG abnormality, Hyperactivity, Abnormality of earlobe, Broad-based ... ORPHA:85293
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response, Orthostatic hypotension, Ataxia OMIM:268800
16P12.1P12.3 Triplication Syndrome
Skin-picking, Large earlobe, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity... ORPHA:485405
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Hyperactivity OMIM:252900
19P13.3 Microduplication Syndrome
Self-injurious behavior, Posteriorly rotated ears, Irritability, Hyperactivity, Microtia ORPHA:447980
Potocki-Lupski Syndrome
Hearing impairment, EEG abnormality, Hyperactivity OMIM:610883
Mend Syndrome
Abnormal auditory evoked potentials, Aggressive behavior, Hyperactivity ORPHA:401973
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Citrullinemia Type Ii
Tremor, Lethargy, Aggressive behavior, Irritability, Hyperactivity, Memory impairment ORPHA:247585
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Abnormally folded helix, Emotional lability, Low frustration tolerance, Hype... OMIM:309520
Choreoacanthocytosis
Hair-pulling, Head titubation, Emotional lability, Head-banging, Progressive inability to walk, F... ORPHA:2388
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Mend Syndrome
Hyperactivity OMIM:300960
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Cockayne Syndrome B
Tremor, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, Sensorineural hear... OMIM:133540
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Protruding ear, Sensorineural hearing impairment, Hyperactivity, Broad-based... OMIM:609625
Intellectual Disability, Birk-Barel Type
Protruding ear, Hyperactivity ORPHA:166108
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Optic nerve hypoplasia, Hyperactivity ORPHA:363686
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Irritability, Mood swings ORPHA:525731
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Early Infantile Epileptic Encephalopathy
Tremor, Episodic ataxia, Dystonia, EEG with spike-wave complexes, Uni- and bilateral multifocal e... ORPHA:1934
Hyperlysinemia
Tremor, EEG with spike-wave complexes, Hypoplastic helices, Hypoplasia of the antihelix, Opisthot... ORPHA:2203
Familial Gestational Hyperthyroidism
Hand tremor, Hyperactivity ORPHA:99819
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Hypsarrhythmia, Low-set, posteriorly rotated ears, Exaggerated startle response, Sensor... ORPHA:521426
Histidinemia
Hyperactivity ORPHA:2157
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Self-injurious behavior, Sensorineural hearing impairment, Hyperac... ORPHA:254346
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Macrotia, Hyperactivity OMIM:300486
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hand tremor, Hyperactivity ORPHA:424
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Protruding ear, Dysmetria, Hyperactivity, Short ear OMIM:614756
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Ataxia, Hyperactivity ORPHA:760
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity, Optic disc pallor OMIM:213300
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mucopolysaccharidosis, Type Iiid
Hearing impairment, Hyperactivity OMIM:252940
White-Sutton Syndrome
Aggressive behavior, Self-injurious behavior, Posteriorly rotated ears, Sensorineural hearing imp... ORPHA:468678
Stankiewicz-Isidor Syndrome
Hearing impairment, Abnormality of the optic disc, Hyperactivity OMIM:617516
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Abnormality of the pinna, Macrotia, Hyperactivity OMIM:618505
Hyperekplexia 1
Exaggerated startle response OMIM:149400
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Brain-Lung-Thyroid Syndrome
Dystonia, Ataxia, Sensorineural hearing impairment, Falls, Intention tremor, Hyperactivity ORPHA:209905
7Q11.23 Microduplication Syndrome
Aggressive behavior, Large earlobe, Overfolded helix, Low-set, posteriorly rotated ears, Self-inj... ORPHA:96121
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Thickened helices, Abnormality of the middle ear ossicles, ... ORPHA:581
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response, Posteriorly rotated ears, Optic atrophy OMIM:617527
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Protruding ear, Irritability, Hyperactivity ORPHA:447997
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Brooks-Wisniewski-Brown syndrome
Posteriorly rotated ears, Cupped ear, Protruding ear, EEG abnormality, Hyperactivity, Optic atrophy OMIM:300612
Mucopolysaccharidosis Type 2
Otosclerosis, Progressive neurologic deterioration, Aggressive behavior, Conductive hearing impai... ORPHA:580
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Low frustration tolerance, Anxiety, Hyperactivity ORPHA:319182
Gm1 Gangliosidosis Type 1
Hearing impairment, Exaggerated startle response, Macrotia ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Orthostatic hypotension due to autonomic dysfunction, Abnormal emotion/affect be... ORPHA:642
Distal Trisomy 17Q
Low-set, posteriorly rotated ears, Protruding ear, Bilateral sensorineural hearing impairment, Hy... ORPHA:3379
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Conductive hearing impairment, Self-injurious behavior, Agoraphobia, Emotion... ORPHA:353281
Maternal Phenylketonuria
Hypoplastic helices, Hyperactivity ORPHA:2209
Tuberous Sclerosis Complex
Aggressive behavior, Self-injurious behavior, Anxiety, Hyperactivity, Attention deficit hyperacti... ORPHA:805
Monosomy 22Q13.3
Hair-pulling, Hearing impairment, Macrotia, Hyperactivity ORPHA:48652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Exaggerated startle response, Optic disc pallor, Broad-based gait ORPHA:438213

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 Relch

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 Relch.

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

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MGI Allele Allele Type Produced
Relchtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Relchem1(IMPC)J Exon Deletion Mice

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