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 mean corpuscular hemoglobin concentration Relchem1(IMPC)J HOM   Early adult 7.49×10-06
decreased exploration in new environment Relchem1(IMPC)J HOM Early adult 5.27×10-05
abnormal vocalization Relchem1(IMPC)J HOM Early adult 1.69×10-06
abnormal auditory brainstem response Relchem1(IMPC)J HOM   Early adult 1.90×10-12
hyperactivity Relchem1(IMPC)J HOM   Early adult 1.79×10-07
increased vertical activity Relchem1(IMPC)J HOM Early adult 6.01×10-05
decreased startle reflex Relchem1(IMPC)J HOM Early adult 6.37×10-07
increased mean corpuscular volume Relchem1(IMPC)J HOM Early adult 7.43×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

8 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
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hyperlysinemia, Type I
Anemia, Hyperactivity, Cognitive impairment OMIM:238700
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Hypsarrhythmia OMIM:619970
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619031
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hyperprolinemia, Type I
Ataxia, EEG abnormality, Hyperactivity, Aggressive behavior OMIM:239500
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Dystonia, Spastic ataxia OMIM:277410
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Cognitive impairment, Hemolytic anemia, Microcytic anemia, Ane... ORPHA:846
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Mental deterioration, Falls, Aggressive behavior, EEG with focal ... ORPHA:2382
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Tremor, Dystonia OMIM:615924
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... ORPHA:98818
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior OMIM:300983
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Gait disturbance, Tremor OMIM:618090
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... ORPHA:320401
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Optic atrophy, Tremor, Aggressive behavior OMIM:619470
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, ... ORPHA:3077
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Cln5 Disease
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... ORPHA:228360
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia OMIM:617113
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia, Hearing impairment ORPHA:2169
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Rasmussen Subacute Encephalitis
EEG with focal spikes, Inability to walk, Hyperactivity, Irritability, Continuous spike and waves... ORPHA:1929
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia OMIM:612716
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia, Dystonia, Ir... ORPHA:248111
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rot... OMIM:609425
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Aggressive behavior ORPHA:100973
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Inability to walk, Hyperactivity, Self-injurious behavior, Tremor, Low-set ears OMIM:618718
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Macrocytic anemia, Atresia of the external auditory canal, Neu... OMIM:612562
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Abcd Syndrome
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... OMIM:601455
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharg... ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, EEG with generalized epileptiform discharges, Self-biting... OMIM:619827
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Protruding ear, Optic nerve hypoplasia, Hearing impairment, Th... ORPHA:261250
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, EEG abnormality, Hyperactivity, Self-injurious behavior, Anxiety, Aggressive behavior OMIM:271980
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Anemia, Leukopenia, Aplastic anemia, Normocytic a... ORPHA:811
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Optic disc pallor, Poikilocytosis, Elliptocytosi... OMIM:616959
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Microtia, Persistence of hemoglobin F, Leukopenia... ORPHA:124
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:261600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis OMIM:611590
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Ataxia, Action tremor, Abnormal autonomic nervous system physio... ORPHA:99027
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... OMIM:301013
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... ORPHA:1942
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Hyperactivity ORPHA:411515
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave ... ORPHA:168491
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Head ti... ORPHA:3240
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia, Irritability ORPHA:848
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Optic atrophy, Macrotia, Hearing impairment OMIM:617302
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... OMIM:601596
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Hyperactivity, Inability to walk, Gait ataxia, Aggressive behavior, Dystonia ORPHA:500180
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... ORPHA:86839
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... ORPHA:101085
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... ORPHA:300298
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:457260
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability ORPHA:3198
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Irritability, Splenomegaly, Extramedullary hematopoiesis, Anis... ORPHA:231226
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Ataxia, Hyperactivity, Progressive language deterioration, S... ORPHA:163681
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Mental deterioration, Progressive neurologic deteriora... ORPHA:206448
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Irritability, Splenomegaly, E... ORPHA:231214
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... OMIM:618278
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Abnormal autonomic nervous system physiology, Mental deterioration, Optic ... ORPHA:35069
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619467
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Tremor, Gait ... ORPHA:363400
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Hyperactivity, Self-injurious behavior, Progressive cerebellar ataxia, Anx... ORPHA:485350
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Protruding ear, Hyperactivity, Tremor, Attention deficit hypera... OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Pitt-Hopkins-Like Syndrome 1
Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Aggressive behavior OMIM:610042
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:369939
Developmental And Epileptic Encephalopathy 103
Ataxia, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave comp... OMIM:619913
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Progressive neurologic deterioration, Aggressive behavior, Hearing i... OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hearing impairment, Hyperactivity, Aggressive behavior OMIM:300958
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Aggressive behavior, Macrotia, Irritability ORPHA:391307
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Anxiety, Autoimmune thrombocytopenia, Attention deficit hyperactivity disorder, Ag... OMIM:301069
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Irritability, Mental deterioration, Progressiv... ORPHA:206436
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Anxiety, Anemia OMIM:184850
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cerebrotendinous Xanthomatosis
Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conduction velocity, ... ORPHA:909
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Anemia, Optic atrophy, Gait disturbance, Difficulty ... ORPHA:90321
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Aganglionic megacolon, Self-mutilation, Athetosis, Dystonia ORPHA:52503
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials ORPHA:529799
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Ataxia, Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia... ORPHA:760
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Abnormal pinna morphology, Ataxia, Hyperactivity, Gait disturbance, Macrotia, Thi... OMIM:614104
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Progressive hearing impairment, Gait disturbance, Attention ... ORPHA:43
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Myopathy With Extrapyramidal Signs
Ataxia, Hyperactivity, Leukocytosis, Splenomegaly, Optic atrophy, Tremor, Difficulty walking, Cho... OMIM:615673
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Opisthotonus, Self-mutilation, Gait ataxia, Agg... OMIM:103050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Hyperactivity, Happy demeanor, EEG wit... ORPHA:98794
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiadochokinesis, Optic atrop... OMIM:610217
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Lead Poisoning
Cognitive impairment, Abnormality of the autonomic nervous system, Memory impairment, Imbalanced ... ORPHA:330015
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Inability to walk, Exaggerated startle response OMIM:609541
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the e... ORPHA:98791
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Blepharospasm, Mental deterioration, Acanthocytosis, Optic atrop... OMIM:234200
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Difficulty walking, Exaggerated startle response ORPHA:320406
Acquired Methemoglobinemia
Methemoglobinemia, Anxiety ORPHA:464453
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Hyperactivity, Motor deterioration, Splenomegaly OMIM:252930
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response, Dementia OMIM:272750
Choreoacanthocytosis
Laryngeal dystonia, Mental deterioration, Falls, Limb dystonia, Emotional lability, Bradyphrenia,... ORPHA:2388
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response, Low-set, posteriorly rotated ears OMIM:618598
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:449291
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Exaggerated startle response, External ear malformation, Anxiety, Dystonia ORPHA:438216
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Memory impairment, Gai... ORPHA:139396
Eisenmenger Syndrome
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:97214
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatosplenomegaly, Optic ... ORPHA:79330
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... OMIM:216400
Tay-Sachs Disease
Inability to walk, Laryngeal dystonia, Dysmetria, Exaggerated startle response, Anxiety, Memory i... ORPHA:845
Sandhoff Disease
Ataxia, Exaggerated startle response, Progressive psychomotor deterioration, Orthostatic hypotens... OMIM:268800
Legius Syndrome
Hyperactivity, Cognitive impairment, Acute monocytic leukemia, Vestibular schwannoma, Attention d... ORPHA:137605
Castleman Disease
Decreased mean corpuscular volume, Anemia, Thrombocytopenia ORPHA:160
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... OMIM:256800
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Mend Syndrome
Low-set ears, Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials ORPHA:401973
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Sensorineural hearing impairment, Abnormal hemoglobin, Self-injurious behavior, Optic atrophy, An... ORPHA:847
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... OMIM:133540
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Microtia OMIM:141750
Early Infantile Epileptic Encephalopathy
EEG abnormality, Hyperactivity, EEG with spike-wave complexes, Self-injurious behavior, EEG with ... ORPHA:1934
Asparagine Synthetase Deficiency
Exaggerated startle response, Hypsarrhythmia, Macrotia OMIM:615574
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder, Low-set ears, Polyspl... OMIM:614294
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... OMIM:260400
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Sensorineural hearing impairment, Microtia, Reduced alpha/beta synthesis ratio, Hypochromic micro... OMIM:301040
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Exaggerated startle response, Low-set, posteriorly rotated ears... ORPHA:521426
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Optic atrophy, Low-set ears, Posteriorly rota... OMIM:617527
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Argininemia
Spastic gait, Hyperactivity, Irritability OMIM:207800
Gm1 Gangliosidosis Type 1
Low-set ears, Exaggerated startle response, Hepatosplenomegaly, Macrotia, Hearing impairment ORPHA:79255
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling ORPHA:447997
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Histidinemia
Hyperactivity ORPHA:2157
Hereditary Sensory And Autonomic Neuropathy Type 4
Hyperactivity, Self-mutilation, Orthostatic hypotension due to autonomic dysfunction, Abnormal em... ORPHA:642
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Protruding ear, Ataxia, Hyperactivity, Dysmetria, Hand tremor, Gait ataxia, Sho... OMIM:614756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Exaggerated startle response, Optic disc pallor, Anemia, Dys... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Microtia, Small earlobe, Attention deficit hyperactivity disorder, ... OMIM:619522

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
Relchtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Relchem1(IMPC)J Exon Deletion Mice
Relchtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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