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Gene: Rell1 MGI:2140767

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Gene Summary

Name:
RELT-like 1
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Rell1em1(IMPC)J HOM   Early adult 1.95×10-08
hyperactivity Rell1em1(IMPC)J HOM Early adult 3.73×10-05
decreased prepulse inhibition Rell1em1(IMPC)J HOM   Early adult 3.86×10-05
increased startle reflex Rell1em1(IMPC)J HOM Early adult 8.37×10-17

Download data as:  TSV  XLS

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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.

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Rell1 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 Rell1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Schizophrenia 15
Hyperactivity OMIM:613950
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... OMIM:301008
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dystonia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... ORPHA:100973
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation OMIM:619970
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Tremor, Hypsarrhythmia, Hyperactivity, Multifocal epileptif... ORPHA:599373
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity OMIM:620270
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Impulsivity OMIM:617113
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, EEG abnormality, Hyperactivity OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia OMIM:301107
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Bruxism, Tremor, Paroxysmal bursts of laughter, EEG abnorm... OMIM:618718
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Aggressive behavior, Hyperactivity, Abnormal pinna morphology OMIM:300983
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Dystonia, Athetosis ORPHA:382
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Ag... OMIM:619827
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with generalized epileptiform discharges, Continuous spike and... ORPHA:98818
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Abnormal fear-induced behavior, Focal EEG discharges with secondary generalizatio... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... ORPHA:206443
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Aggressive behavior, EEG abnormality, Hyperactivity, Dystonia, Dysphagia, Impulsivity ORPHA:500180
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Abnormality of superior crus of antihelix, Attention deficit hyperactivi... OMIM:301013
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response ORPHA:309246
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, EEG with generalized epileptiform discharges, Self-mutilation, Stereoty... ORPHA:163681
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Restless legs, Sensorineural heari... ORPHA:101085
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Tongue thrusting, Limb tremor, Torticollis, Exag... OMIM:608643
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality, Hyperactivity, Mo... OMIM:610042
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Resting tremor, Abnormal motor evoked potenti... ORPHA:909
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hyperactivity, EEG abnormality, Exaggerated startle response, Macrotia OMIM:617281
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Impulsivity, Hypsarrhythmia, Hyperactivity, Exaggerated startle respo... OMIM:620423
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Agitation, Tremor, Exaggerated startle response OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
EEG with generalized slow activity, Optic nerve hypoplasia, Macrotia, Exaggerated startle response OMIM:617864
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... ORPHA:90321
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... ORPHA:521426
Mend Syndrome
Low-set ears, Aggressive behavior, Abnormal auditory evoked potentials, Hyperactivity ORPHA:401973
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Hand tremor ORPHA:99819
Tay-Sachs Disease
Optic atrophy, Hearing impairment, Laryngeal dystonia, Tremor, Exaggerated startle response, Dyst... ORPHA:845
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, ... OMIM:216400
Asparagine Synthetase Deficiency
EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated startle response, Mac... OMIM:615574
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Hand tremor ORPHA:424
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Tremor, Aggressive behavior, Hyperactivity, Dystonia, Choreoathetosis OMIM:612716
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Dysphagia, Exaggerated startle response, Posteriorly rotated ears OMIM:617527
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Macrotia, Exaggerated startle response ORPHA:79255
Histidinemia
Hyperactivity ORPHA:2157
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Exaggerated startle response OMIM:620451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Dysphagia, Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Motor stereotypy, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated ... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Stereotypical hand wringing, Exaggerated startle response, Optic disc pallor, Dystonia, Dysphagia 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 Rell1

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 Rell1.

No publications found that use IMPC mice or data for Rell1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rell1em1(IMPC)J Exon Deletion Mice
Rell1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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