Gene Summary

Name:
immunoglobulin superfamily, member 9B
Synonyms:
AI414108,  LOC235086

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
increased vertical activity Igsf9bem1(IMPC)J HOM Early adult 1.61×10-06
abnormal auditory brainstem response Igsf9bem1(IMPC)J HOM   Early adult 7.15×10-05
hyperactivity Igsf9bem1(IMPC)J HOM Early adult 3.34×10-20
irregularly shaped pupil Igsf9bem1(IMPC)J HOM Early adult 3.55×10-10
increased exploration in new environment Igsf9bem1(IMPC)J HOM Early adult 3.21×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body 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
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Hearing impairment, Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:620038
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis, Cognitive impairment OMIM:238700
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... ORPHA:280397
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Hypsarrhythmia OMIM:619970
Anterior Segment Dysgenesis 3
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... OMIM:601631
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
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Morm Syndrome
Aggressive behavior, Hyperactivity, Cataract ORPHA:75858
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Anxiety, Difficulty walking, Attention deficit hyperacti... OMIM:619191
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Charcot-Marie-Tooth Disease Type 1B
Hearing impairment, Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:101082
Hyperprolinemia, Type I
Ataxia, EEG abnormality, Hyperactivity, Aggressive behavior OMIM:239500
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Mental deterioration, Falls, Aggressive behavior, EEG with focal ... ORPHA:2382
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... ORPHA:320401
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Alexander Disease
Ataxia, Microcoria, Apathy, Dysmetria OMIM:203450
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... ORPHA:98818
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Hypsarrhythmia OMIM:617113
Phenylketonuria
Hyperactivity, Blue irides, Self-mutilation, Anxiety, Attention deficit hyperactivity disorder, C... OMIM:261600
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Norrie Disease
Sensorineural hearing impairment, Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacifi... OMIM:310600
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Hyperactivity, Iris hypopigmentation ORPHA:411515
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Aggressive behavior ORPHA:100973
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Aggressive behavior OMIM:300983
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Gait ataxia, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rot... OMIM:609425
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Aggressive behavior OMIM:619470
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Blue irides, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... OMIM:601455
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis, Cognitive impairment ORPHA:1885
Cln5 Disease
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... ORPHA:228360
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
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Focal EE... ORPHA:3077
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Rasmussen Subacute Encephalitis
EEG with focal spikes, Inability to walk, Hyperactivity, Irritability, Continuous spike and waves... ORPHA:1929
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Ataxia, Hyperactivity OMIM:615924
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior ORPHA:382
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... OMIM:301013
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, EEG abnormality, Hyperactivity, Self-injurious behavior, Anxiety, Aggressive behavior OMIM:271980
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism OMIM:619927
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Gait ataxia, Irritability... ORPHA:248111
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave ... ORPHA:168491
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism ORPHA:54
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Inability to walk, Self-injurious behavior, Hyperactivity, Low-set ears OMIM:618718
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Charcot-Marie-Tooth Disease Type 1E
Sensorineural hearing impairment, Gait imbalance, Inability to walk, Abnormal pupil morphology, D... ORPHA:90658
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Optic atrophy, Macrotia, Hearing impairment OMIM:617302
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharg... ORPHA:88616
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior OMIM:612716
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Mydriasis, Progressive gait ataxia ORPHA:247815
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... OMIM:601596
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Short Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormal pupil morphology, Abnormal anterior c... ORPHA:3163
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:457260
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... OMIM:221900
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Ataxia, Hyperactivity, Progressive language deterioration, S... ORPHA:163681
Facial Spasm
Anisocoria OMIM:134300
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Hyperactivity, Abnormal autonomic nervous system... OMIM:256800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal... OMIM:109120
Pitt-Hopkins-Like Syndrome 1
Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Aggressive behavior OMIM:610042
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Mental deterioration, Progressive neurologic deteriora... ORPHA:206448
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... ORPHA:1942
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Axenfeld-Rieger Syndrome, Type 3
Sensorineural hearing impairment, Ectopia pupillae, Posterior embryotoxon, Hypoplasia of the iris... OMIM:602482
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Aniridia 1
Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... OMIM:106210
Familial Dysautonomia
Ataxia, Corneal opacity, Abnormal pupil morphology, Orthostatic hypotension, Optic atrophy, Gait ... ORPHA:1764
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Hyperactivity, Inability to walk, Gait ataxia, Aggressive behavior ORPHA:500180
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior OMIM:619467
Distal Monosomy 6P
Low-set ears, Corneal opacity, Self-injurious behavior, Abnormal anterior chamber morphology, Ect... ORPHA:96125
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Hyperactivity, Dysmetria, Aggressive behavior, Unsteady gait, Hypsarrhythmia, Lo... OMIM:617773
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:369939
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... ORPHA:209959
Superficial Siderosis
Ataxia, Limb ataxia, Dysmetria, Cognitive impairment, Dysdiadochokinesis, Anisocoria, Memory impa... ORPHA:247245
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Hyperactivity, Self-injurious behavior, Progressive cerebellar ataxia, Anx... ORPHA:485350
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait OMIM:617865
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Cataract, Anisocoria OMIM:619649
Norrie Disease
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Abnormal helix morphology, Abn... ORPHA:649
Achalasia-Addisonianism-Alacrima Syndrome
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Anisocoria, Optic ... OMIM:231550
Triopia
Iris coloboma, Abnormal pupil morphology, Microcornea ORPHA:3374
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Ataxia, Abnormal autonomic nervous system physiology, Dysmetria... ORPHA:99027
Trisomy 9P
Protruding ear, Abnormal pupil morphology, Macrotia ORPHA:236
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior, Macrotia OMIM:300558
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Optic disc pallor, Cataract, Abnormal auditory evoked p... OMIM:619260
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Aggressive behavior ORPHA:289483
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Duane Retraction Syndrome
Sensorineural hearing impairment, Hypoplastic iris stroma, Abnormal pupil morphology, External ea... ORPHA:233
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Abnormal autonomic nervous system physiology, Mental deterioration, Optic ... ORPHA:35069
Coats Disease
Leukocoria OMIM:300216
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hearing impairment, Hyperactivity, Aggressive behavior OMIM:300958
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Progressive hearing impairment, Gait disturbance, Attention ... ORPHA:43
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Developmental And Epileptic Encephalopathy 103
Ataxia, Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave comp... OMIM:619913
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... OMIM:180500
Revesz Syndrome
Ataxia, Megalocornea, Progressive neurologic deterioration, Leukocoria OMIM:268130
Trichinellosis
Apathy, Anisocoria, Memory impairment, Tinnitus, Abnormal uvea morphology, Facial palsy, Conjunct... ORPHA:863
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Abnormal pinna morphology, Ataxia, Hyperactivity, Gait disturbance, Macrotia, Thi... OMIM:614104
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, EEG abnormality, Hyperactivity, Happy demeanor, EEG wit... ORPHA:98794
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Fragile X Syndrome
Hyperactivity, Self-biting, Macrotia OMIM:300624
Proteus-Like Syndrome
Limbal dermoid, Cataract, Abnormal pupil morphology, Heterochromia iridis ORPHA:2969
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Hyperactivity, Aggressive behavior, Progressive neurologic deterioration OMIM:252920
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Alagille Syndrome
Protruding ear, Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Gomez-Lopez-Hernandez Syndrome
Ataxia, Hyperactivity, Self-injurious behavior, Cognitive impairment, Opacification of the cornea... OMIM:601853
Cerebrotendinous Xanthomatosis
Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conduction velocity, ... ORPHA:909
Bickerstaff Brainstem Encephalitis
Ataxia, EEG abnormality, Abnormality of the autonomic nervous system, Decreased motor nerve condu... ORPHA:79138
Infantile Krabbe Disease
Decreased nerve conduction velocity, Irritability, Mental deterioration, Progressive neurologic d... ORPHA:206436
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Charcot-Marie-Tooth Disease Type 4C
Sensorineural hearing impairment, Inability to walk, Decreased motor nerve conduction velocity, A... ORPHA:99949
Mend Syndrome
Low-set ears, Hyperactivity, Cataract OMIM:300960
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Macrotia ORPHA:391307
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity OMIM:300143
Serotonin Syndrome
Mental deterioration, Abnormality of the autonomic nervous system, Anxiety, Mydriasis, Irritability ORPHA:43116
Oculodentodigital Dysplasia, Autosomal Recessive
Large earlobe, Microcornea, Cataract, Low-set ears, Persistent pupillary membrane OMIM:257850
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... ORPHA:90321
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis ORPHA:254509
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Athetosis, Aganglionic megacolon ORPHA:52503
Arachnoid Cyst
Social and occupational deterioration, Inability to walk, Cranial nerve compression, Memory impai... ORPHA:2356
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Ectopia pupillae, Cataract, Astigmatism OMIM:618727
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... OMIM:103050
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Alacrima, Achalasia, And Mental Retardation Syndrome
Orthostatic hypotension, Hearing impairment, Anisocoria, Ataxia OMIM:615510
Mend Syndrome
Hyperactivity, Cataract, Aggressive behavior, Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Inability to walk, Hyperactivity, Self... ORPHA:72
Oculocerebrorenal Syndrome Of Lowe
Protruding ear, EEG abnormality, Abnormal pupil morphology, Corneal opacity, Self-injurious behav... ORPHA:534
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:449291
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Intellectual Developmental Disorder, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity OMIM:617600
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Memory impairment, Gai... ORPHA:139396
Angelman Syndrome
Broad-based gait, EEG abnormality, Hyperactivity, Blue irides, Progressive gait ataxia OMIM:105830
Knobloch Syndrome 1
Ataxia, Lens subluxation, Band keratopathy, Chorioretinal atrophy, Optic disc pallor, Iris transi... OMIM:267750
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Intestinal Botulism
Mydriasis ORPHA:178481
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Iris Hypoplasia With Glaucoma
Hypoplasia of the iris, Iris atrophy OMIM:308500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Peters anomaly, Cataract, Persistent pupillary membrane OMIM:613150
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Optic atrophy, Gait ataxia, E... OMIM:610217
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract, Thickened helices, Macrotia ORPHA:2714
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Overfolded helix, Low-set ears, Cupped ear, Ectopia pupillae OMIM:618223
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... OMIM:216400
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Gait ataxia, Macrotia, Low frustration tolerance OMIM:300486
Alternating Hemiplegia Of Childhood
Ataxia, Abnormal autonomic nervous system physiology, Progressive neurologic deterioration, Mydri... ORPHA:2131
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... OMIM:133540
Wound Botulism
Mydriasis ORPHA:178475
Histidinemia
Hyperactivity ORPHA:2157
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Nephronophthisis 11
Anisocoria OMIM:613550
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Pierson Syndrome
Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of the iris, Hypoplas... OMIM:609049
Inhalational Botulism
Mydriasis ORPHA:254504
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
Legius Syndrome
Hyperactivity, Cognitive impairment, Vestibular schwannoma, Attention deficit hyperactivity disor... ORPHA:137605
Witteveen-Kolk Syndrome
Sensorineural hearing impairment, Uplifted earlobe, Protruding ear, Conspicuously happy dispositi... OMIM:613406
Botulism
Mydriasis ORPHA:1267
Foodborne Botulism
Mydriasis ORPHA:228371
Juvenile Glaucoma
Optic neuropathy, Increased cup-to-disc ratio, Abnormal anterior chamber morphology, Temporal opt... ORPHA:98977
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Corneal opacity, Corneal neovascularization, Ectopia pupillae, Facial paralysis, Micro... OMIM:175780
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overfolded helix, Low-set ears, Difficulty walking, Anisocoria OMIM:618653
Cutis Marmorata Telangiectatica Congenita
Cognitive impairment, Leukocoria ORPHA:1556
Infant Botulism
Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Optic atrophy, Optic disc pallor, Facial palsy, Irritability OMIM:259720
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mowat-Wilson Syndrome
Large earlobe, Uplifted earlobe, Happy demeanor, Ectopia pupillae, Cupped ear, Microcornea, Iris ... OMIM:235730
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment ORPHA:79330
Retinoblastoma
Hypopyon, Uveitis, Heterochromia iridis, Leukocoria ORPHA:790
Argininemia
Spastic gait, Hyperactivity, Irritability OMIM:207800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Sensorineural hearing impairment, Uplifted earlobe, Broad-based gait, EEG abnormality, Inability ... ORPHA:261552
Early Infantile Epileptic Encephalopathy
EEG abnormality, Hyperactivity, EEG with spike-wave complexes, Self-injurious behavior, EEG with ... ORPHA:1934
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling ORPHA:447997
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, EEG a... OMIM:194190
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Mental deterioration, Optic atrophy, Gait disturbance, Choreoath... OMIM:234200
Pituitary Apoplexy
Mydriasis ORPHA:95613
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Protruding ear, Ataxia, Hyperactivity, Dysmetria, Astigmatism, Gait ataxia, Sho... OMIM:614756
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Mydriasis, Optic atrophy, Optic nerve compression, Hearing impairment OMIM:619727
Choreoacanthocytosis
Bradyphrenia, Loss of ambulation, Apathy, Hyperactivity, Self-injurious behavior, Abnormal autono... ORPHA:2388
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Corneal ulceration, Hyperactivity, Self-mutilation, Orthostatic hypotension due... ORPHA:642
Retinoblastoma
Leukocoria OMIM:180200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Sensorineural hearing impairment, Mydriasis OMIM:619351
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Plague
Anxiety, Mydriasis, Unsteady gait, Hearing impairment, Conjunctival hyperemia ORPHA:707
Vascular Ehlers-Danlos Syndrome
Protruding ear, Abnormal pupil morphology, Cognitive impairment, Keratoconus, Aplasia/Hypoplasia ... ORPHA:286
Cocaine Intoxication
Mydriasis ORPHA:90068
Scorpion Envenomation
Ataxia, Mydriasis ORPHA:466677
Sponastrime Dysplasia
Congenital aphakia, Microcoria, Cataract ORPHA:93357

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 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.

Order Mouse and ES Cells

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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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