Gene Summary

immunoglobulin superfamily, member 9B
AI414108,  LOC235086

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased exploration in new environment Igsf9bem1(IMPC)J HOM Early adult 3.66×10-05
hyperactivity Igsf9bem1(IMPC)J HOM Early adult 4.48×10-20
increased vertical activity Igsf9bem1(IMPC)J HOM Early adult 1.95×10-07
irregularly shaped pupil Igsf9bem1(IMPC)J HOM Early adult 4.59×10-10

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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.


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

9 Images


XRay Images Skull Dorso Ventral Orientation

9 Images


XRay Images Forepaw

9 Images


XRay Images Skull Lateral Orientation

9 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Igsf9b 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 Igsf9b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Atten... ORPHA:280397
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Developmental And Epileptic Encephalopathy 56
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Anxiety OMIM:617665
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Gilles De La Tourette Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation OMIM:137580
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Diffi... OMIM:619191
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior OMIM:619639
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment, Ectopia lentis OMIM:238700
Morm Syndrome
Hyperactivity, Aggressive behavior, Cataract ORPHA:75858
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Progressive cerebellar ataxia, Mental deterioration, Attention deficit... OMIM:605361
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior OMIM:248510
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Cataract, Anxiety... OMIM:261600
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Mental deterioration, Ataxia OMIM:615924
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritabil... ORPHA:248111
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Cognitive impairment, Ataxia, Emotional lability, Attention deficit hyperactivity diso... OMIM:614306
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait OMIM:615516
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, Limb ataxia ORPHA:247815
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hyperactivity, Ataxia, Iris hypopigmentation, Broad-based gait ORPHA:411515
Facial Spasm
Anisocoria OMIM:134300
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism ORPHA:54
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety OMIM:616977
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Anisocoria OMIM:106240
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... OMIM:221900
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Uveitis OMIM:617044
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety OMIM:301013
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... ORPHA:3163
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior uveitis, Corneal keratic precipitates, Corneal stroma... ORPHA:209959
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior OMIM:619467
Charcot-Marie-Tooth Disease Type 1E
Gait disturbance, Gait imbalance, Steppage gait, Abnormal pupil morphology, Inability to walk, An... ORPHA:90658
Coats Disease
Leukocoria OMIM:300216
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Uveal Melanoma
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Revesz Syndrome
Leukocoria, Ataxia, Progressive neurologic deterioration, Megalocornea OMIM:268130
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Intellectual Disability-Alacrima-Achalasia Syndrome
Aggressive behavior, Anisocoria ORPHA:289483
Abnormal pupil morphology, Microcornea, Iris coloboma ORPHA:3374
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Irritability, Emotional lab... ORPHA:1929
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon OMIM:602482
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Familial Dysautonomia
Gait disturbance, Corneal erosion, Heterochromia iridis, Ataxia, Abnormal pupil morphology, Corne... ORPHA:1764
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk OMIM:618718
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Self-mutilation, Keratitis, Hyperactivity, Emotional lability, Corneal ulcerati... OMIM:256800
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Conjunctival hyperemia, Conjunctivitis, Apathy, Abnormal uvea morphology, Irritability, Anisocori... ORPHA:863
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Anxiety ORPHA:101039
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Self-injurious behavior, Corneal opacity, Abnormal... ORPHA:96125
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Motor deterioration, Aggressive behavior, Astigmatism, Hyperactivity,... ORPHA:168491
Superficial Siderosis
Dementia, Dysmetria, Cognitive impairment, Progressive gait ataxia, Ataxia, Dysdiadochokinesis, U... ORPHA:247245
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Hyperactivity, Ataxia, Gait ataxia, ... ORPHA:363400
Alacrima, Achalasia, And Mental Retardation Syndrome
Gait disturbance, Anisocoria OMIM:615510
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Pierson Syndrome
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... OMIM:609049
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Duane Retraction Syndrome
Chorioretinal coloboma, Aniridia, Hypoplastic iris stroma, Iris coloboma, Central heterochromia, ... ORPHA:233
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Intellectual Developmental Disorder, X-Linked 30
Aggressive behavior, Hyperactivity, Anxiety OMIM:300558
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hyperopic astigmatism ORPHA:397973
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... ORPHA:485350
Hyperphosphatasia With Mental Retardation Syndrome 6
Hyperactivity, Aggressive behavior, Developmental cataract OMIM:616809
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, Progressive language deterioration OMIM:610042
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... OMIM:180500
Proteus-Like Syndrome
Heterochromia iridis, Abnormal pupil morphology, Cataract, Limbal dermoid ORPHA:2969
Gand Syndrome
Hyperactivity OMIM:615074
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia ORPHA:88616
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Achalasia-Addisonianism-Alacrima Syndrome
Ataxia, Anisocoria OMIM:231550
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Hyperactivity, Attention d... ORPHA:43
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Alagille Syndrome
Abnormal pupil morphology, Corneal dystrophy, Keratoconus ORPHA:52
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Psychomotor deterioration, Hyperactivity, Ataxia, Emotional lability,... ORPHA:35069
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Self-injurious behavior, ... ORPHA:649
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Cognitive impairment, Hyperactivity, Ataxia, Opacification of the cornea... OMIM:601853
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolera... ORPHA:163681
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Mental ... OMIM:610217
Mend Syndrome
Hyperactivity, Cataract OMIM:300960
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... ORPHA:1942
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity OMIM:614613
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia, Happy demeanor OMIM:614104
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Arachnoid Cyst
Mydriasis, Gait disturbance, Social and occupational deterioration, Inability to walk, Irritabili... ORPHA:2356
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:300354
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Persistent pupillary membrane, Cataract OMIM:257850
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Hyperactivity ORPHA:2157
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Serotonin Syndrome
Mental deterioration, Anxiety, Irritability, Mydriasis ORPHA:43116
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, Hyperactivity, Iris hypopigmentation, Broad-based gait ORPHA:98794
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Astigmatism, Cataract, Ectopia pupillae OMIM:618727
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Cataract, A... OMIM:123450
Fragile X Syndrome
Hyperactivity OMIM:300624
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, Astigmatism, Microcor... OMIM:175780
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Hyperopic astigmatism, Hyperactivity, Low frustration tolerance, Astigmatism ORPHA:363686
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Self-injurious behavior, Chorioretinal dysplasia, Lentiglobus, Abnormal pupil morpho... ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Cataract, Peters anomaly OMIM:613150
Charcot-Marie-Tooth Disease Type 4C
Inability to walk, Gait ataxia, Anisocoria, Difficulty walking ORPHA:99949
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging OMIM:182290
Iatrogenic Botulism
Mydriasis ORPHA:254509
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Anxiety, Ataxia OMIM:618430
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:609625
Wound Botulism
Mydriasis ORPHA:178475
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Mental deterioration, Diff... ORPHA:139396
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Astigmatism, Hyperactivity, Inabili... ORPHA:72
Inhalational Botulism
Mydriasis ORPHA:254504
Nephronophthisis 11
Anisocoria OMIM:613550
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation OMIM:300486
Alternating Hemiplegia Of Childhood
Mydriasis, Dystonia, Aggressive behavior, Progressive neurologic deterioration, Ataxia, Emotional... ORPHA:2131
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Witteveen-Kolk Syndrome
Aggressive behavior, Conspicuously happy disposition, Iris coloboma, Hyperactivity, Attention def... OMIM:613406
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Hyperactivity, Aggressive behavior, Ataxia, Ocular anterior segment dysgenesis ORPHA:369891
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Angelman Syndrome
Blue irides, Hyperactivity, Progressive gait ataxia, Broad-based gait OMIM:105830
Bickerstaff Brainstem Encephalitis
Mydriasis, Ataxia, Anisocoria ORPHA:79138
Mydriasis ORPHA:1267
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Motor deterioration OMIM:252930
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability ORPHA:447980
Foodborne Botulism
Mydriasis ORPHA:228371
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract ORPHA:2714
Legius Syndrome
Dystonia, Cognitive impairment, Hyperactivity, Cataract, Attention deficit hyperactivity disorder ORPHA:137605
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Cutis Marmorata Telangiectatica Congenita
Cognitive impairment, Leukocoria ORPHA:1556
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Irritability, Keratitis ORPHA:525731
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Difficulty walking OMIM:618653
Citrullinemia Type Ii
Aggressive behavior, Hyperactivity, Irritability, Memory impairment, Lethargy ORPHA:247585
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Dementia, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Mental deter... OMIM:234200
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Low frustration tolerance, Hyperactivity, Aggressive behavior, Shuffling gait OMIM:300534
Heterochromia iridis, Hypopyon, Uveitis, Leukocoria ORPHA:790
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Hyperactivity, Spastic gait, Irritability OMIM:207800
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Iris coloboma, Hyperactivity, Astigmatism ORPHA:468678
Hair-pulling, Lingual dystonia, Loss of ambulation, Bradyphrenia, Oromandibular dystonia, Self-in... ORPHA:2388
Joubert Syndrome 1
Chorioretinal coloboma, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia OMIM:213300
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:85293
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:300912
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Happy demeanor, Axenfeld anomaly, Iris coloboma, Iris atrophy, Abnormal pupil morphology, Inabili... ORPHA:261552
Pituitary Apoplexy
Mydriasis ORPHA:95613
Leukocoria OMIM:180200
Koolen-De Vries Syndrome
Conspicuously happy disposition, Hyperactivity, Cataract, Iris hypopigmentation, Anxiety OMIM:610443
Oculoectodermal Syndrome
Limbal dermoid, Astigmatism, Hyperactivity, Opacification of the corneal stroma, Microcornea OMIM:600268
Mowat-Wilson Syndrome
Chorioretinal coloboma, Happy demeanor, Iris coloboma, Cataract, Microcornea, Ectopia pupillae OMIM:235730
Mucopolysaccharidosis Type 3
Gait disturbance, Dementia, Loss of ambulation, Aggressive behavior, Progressive neurologic deter... ORPHA:581
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Wiedemann-Steiner Syndrome
Aggressive behavior, Hyperactivity, Low frustration tolerance, Psychomotor deterioration, Anxiety ORPHA:319182
Dubowitz Syndrome
Hyperactivity, Megalocornea, Hypoplasia of the iris, Iris coloboma OMIM:223370
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Wolf-Hirschhorn Syndrome
Rieger anomaly, Ectopia pupillae, Iris coloboma OMIM:194190
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Violent behavior, Chorioretinal coloboma, Torticollis, Suicidal ideation, Cognitive imp... OMIM:619475
Scorpion Envenomation
Mydriasis, Ataxia ORPHA:466677
Hereditary Sensory And Autonomic Neuropathy Type 4
Decreased corneal reflex, Corneal scarring, Self-mutilation, Hyperactivity, Corneal ulceration, D... ORPHA:642
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Astigmatism, Hyperactivity, Corneal opacity, Anxiety ORPHA:464306
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Cocaine Intoxication
Mydriasis ORPHA:90068
Unsteady gait, Anxiety, Conjunctival hyperemia, Mydriasis ORPHA:707
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Chorioretinal hypopigmentation, Anxi... ORPHA:805
Mend Syndrome
Hyperactivity, Aggressive behavior, Cataract ORPHA:401973
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Cognitive impairment, Keratoconus ORPHA:286
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability ORPHA:447997
Mucopolysaccharidosis Type 2
Aggressive behavior, Cognitive impairment, Progressive neurologic deterioration, Hyperactivity, C... ORPHA:580
Sponastrime Dysplasia
Microcoria, Congenital aphakia, Cataract ORPHA:93357
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Early Infantile Epileptic Encephalopathy
Hyperactivity, Dystonia, Self-injurious behavior, Episodic ataxia ORPHA:1934
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hyperactivity ORPHA:280651


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 Igsf9b

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 Igsf9b.

No publications found that use IMPC mice or data for Igsf9b.

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MGI Allele Allele Type Produced
Igsf9btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Igsf9bem1(IMPC)J Exon Deletion Mice

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