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 3.21×10-05
increased vertical activity Igsf9bem1(IMPC)J HOM Early adult 2.61×10-07
hyperactivity Igsf9bem1(IMPC)J HOM Early adult 3.37×10-20
irregularly shaped pupil Igsf9bem1(IMPC)J HOM Early adult 5.70×10-10

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Skull Lateral Orientation

9 Images


XRay Images Forepaw

9 Images


XRay Images Whole Body Dorso Ventral

9 Images


XRay Images Skull Dorso Ventral Orientation

9 Images


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
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment, Ectopia lentis OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Hartnup Disorder
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Difficulty walking, Attention deficit hyperactivity disorder, Ment... OMIM:619191
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Diminished ability to concentrate... OMIM:615516
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... OMIM:261600
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Dysphagia OMIM:300858
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia... ORPHA:411515
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Cognitive impairment, Ectopia lentis ORPHA:1885
Landau-Kleffner Syndrome
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... ORPHA:98818
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... ORPHA:248111
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Alexander Disease
Microcoria, Ataxia, Dysmetria OMIM:203450
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Facial Spasm
Anisocoria OMIM:134300
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Dysphagia, Aggressive behavior ORPHA:289483
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Mydriasis ORPHA:247815
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Coats Disease
Leukocoria OMIM:300216
Serotonin Syndrome
Restlessness, Confusion, Irritability, Agitation, Mental deterioration, Delirium, Mydriasis ORPHA:43116
Intestinal Botulism
Dysphagia, Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Dysphagia, Mydriasis ORPHA:230800
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Charcot-Marie-Tooth Disease Type 1E
Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i... ORPHA:90658
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Miller Fisher Syndrome
Anisocoria, Ataxia, Dysphagia, Mydriasis ORPHA:98919
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Astigmatism, ... ORPHA:168491
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Familial Dysautonomia
Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro... ORPHA:1764
Confusion, Anisocoria, Irritability, Conjunctivitis, Abnormal uvea morphology, Dysphagia, Memory ... ORPHA:863
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... ORPHA:449291
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Gait disturbance, Attention deficit ... ORPHA:43
Iatrogenic Botulism
Dysphagia, Mydriasis ORPHA:254509
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Wound Botulism
Dysphagia, Mydriasis ORPHA:178475
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Nephronophthisis 11
Anisocoria, Polydipsia OMIM:613550
Superficial Siderosis
Ataxia, Unsteady gait, Dysmetria, Limb ataxia, Anisocoria, Progressive gait ataxia, Dysdiadochoki... ORPHA:247245
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
Revesz Syndrome
Megalocornea, Ataxia, Leukocoria, Progressive neurologic deterioration OMIM:268130
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Low frustration tolerance, Abno... ORPHA:163681
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Proteus-Like Syndrome
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis ORPHA:2969
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Arachnoid Cyst
Inability to walk, Depression, Social and occupational deterioration, Irritability, Disinhibition... ORPHA:2356
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Duane Retraction Syndrome
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... ORPHA:233
Infant Botulism
Keratoconjunctivitis sicca, Dysphagia, Anorexia, Mydriasis ORPHA:178478
Dysphagia, Mydriasis ORPHA:1267
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... OMIM:610217
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Foodborne Botulism
Dysphagia, Mydriasis ORPHA:228371
Alternating Hemiplegia Of Childhood
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Progressive neurol... ORPHA:2131
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... ORPHA:139396
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity OMIM:608747
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Ataxia, Dysphagia OMIM:615510
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Ataxia OMIM:231550
Hyperactivity ORPHA:2157
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Depression, Buphth... ORPHA:534
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Attention deficit hyperactivity disorder OMIM:618223
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Cataract ORPHA:45358
Bickerstaff Brainstem Encephalitis
Anisocoria, Ataxia, Confusion, Mydriasis ORPHA:79138
Charcot-Marie-Tooth Disease Type 4C
Anisocoria, Inability to walk, Difficulty walking, Gait ataxia ORPHA:99949
Inhalational Botulism
Mydriasis ORPHA:254504
Knobloch Syndrome 1
Ataxia, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination d... OMIM:267750
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Ataxia OMIM:620047
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria, Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... OMIM:234200
Irritability, Hyperactivity, Spastic gait, Anorexia OMIM:207800
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Cognitive impairment ORPHA:1556
Scalp-Ear-Nipple Syndrome
Anisocoria, Cataract, Iris coloboma, Developmental cataract OMIM:181270
Pituitary Apoplexy
Confusion, Mydriasis ORPHA:95613
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Cocaine Intoxication
Mania, Agitation, Delirium, Mydriasis ORPHA:90068
Hypopyon, Heterochromia iridis, Leukocoria, Uveitis ORPHA:790
Osteopetrosis, Autosomal Recessive 5
Irritability, Mydriasis OMIM:259720
Witteveen-Kolk Syndrome
Hyperactivity, Cataract, Aggressive behavior, Anisocoria, Attention deficit hyperactivity disorde... OMIM:613406
Wolf-Hirschhorn Syndrome
Abnormal repetitive mannerisms, Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Broad-based gait, Cataract, Inability to walk, Abnormal pupil morphology, Dysphagia... ORPHA:261552
Leukocoria OMIM:180200
Anorexia, Unsteady gait, Depression, Conjunctival hyperemia, Delirium, Mydriasis ORPHA:707
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Scorpion Envenomation
Restlessness, Ataxia, Mydriasis ORPHA:466677
Mowat-Wilson Syndrome
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma OMIM:235730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology, Cognitive impairment ORPHA:286
Sponastrime Dysplasia
Microcoria, Cataract, Congenital aphakia ORPHA:93357
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727


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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