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Gene: Igsf9b MGI:2685354

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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 5.95×10-10
increased exploration in new environment Igsf9bem1(IMPC)J HOM Early adult 3.21×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by 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, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity 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
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Familial Alzheimer-Like Prion Disease
Depression, Emotional lability, Attention deficit hyperactivity disorder, Cognitive impairment, D... ORPHA:280397
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Depression, Difficulty walking, Dysmetria, Attention deficit hyperactivity ... OMIM:619191
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Irritability OMIM:616657
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Emotional lability, Episodic ataxia OMIM:234500
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Morm Syndrome
Cataract, Aggressive behavior, Hyperactivity ORPHA:75858
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Glycine Encephalopathy 1
Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Phenylketonuria
Cataract, Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyper... OMIM:261600
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... OMIM:310600
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Short attention span, Polyphagia... ORPHA:411515
Lennox-Gastaut Syndrome
Mental deterioration, Falls, Irritability, Aggressive behavior, Hyperactivity ORPHA:2382
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Cognitive impairment, Ectopia pupillae ORPHA:1885
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Emotional lability, Gait ataxia, Aggressive ... ORPHA:98818
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Aggressive behavior, Hyperactivity OMIM:248510
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Dementia, Progres... ORPHA:248111
Alexander Disease
Microcoria, Dysmetria, Ataxia OMIM:203450
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Facial Spasm
Anisocoria OMIM:134300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... OMIM:620141
Intellectual Disability-Alacrima-Achalasia Syndrome
Aggressive behavior, Anisocoria, Dysphagia ORPHA:289483
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ataxia ORPHA:247815
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Depression, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:619467
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Hyperlysinemia, Type I
Ectopia lentis, Short attention span, Cognitive impairment, Hyperactivity, Dysdiadochokinesis OMIM:238700
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Coats Disease
Leukocoria OMIM:300216
Serotonin Syndrome
Mental deterioration, Mydriasis, Confusion, Irritability, Delirium, Restlessness, Agitation ORPHA:43116
Charcot-Marie-Tooth Disease Type 1E
Difficulty walking, Inability to walk, Abnormal pupil morphology, Gait imbalance, Steppage gait, ... ORPHA:90658
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Distal Deletion 6P
Self-injurious behavior, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnorma... ORPHA:96125
Intestinal Botulism
Mydriasis, Dysphagia ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis, Dysphagia ORPHA:230800
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Progressive... OMIM:610042
Miller Fisher Syndrome
Mydriasis, Anisocoria, Dysphagia, Ataxia ORPHA:98919
Late Infantile Neuronal Ceroid Lipofuscinosis
Mental deterioration, Inability to walk, Low frustration tolerance, Astigmatism, Obsessive-compul... ORPHA:168491
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Gait disturbance, Corneal opacity, Ataxia, Corne... ORPHA:1764
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Emotional lability, Self-mutilation, Recurrent corneal erosions, Hyp... OMIM:256800
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Short ... ORPHA:98794
Trichinellosis
Memory impairment, Confusion, Irritability, Conjunctival hyperemia, Anisocoria, Conjunctivitis, A... ORPHA:863
Graves Disease
Polyphagia, Hyperactivity, Irritability OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance, C... ORPHA:43
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Nephronophthisis 11
Anisocoria, Polydipsia OMIM:613550
Superficial Siderosis
Memory impairment, Limb ataxia, Dysmetria, Progressive gait ataxia, Cognitive impairment, Ataxia,... ORPHA:247245
Iatrogenic Botulism
Mydriasis, Dysphagia ORPHA:254509
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Wound Botulism
Mydriasis, Dysphagia ORPHA:178475
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stere... ORPHA:163681
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Revesz Syndrome
Broad-based gait, Megalocornea, Leukocoria, Ataxia, Progressive neurologic deterioration OMIM:268130
Arachnoid Cyst
Mydriasis, Memory impairment, Depression, Inability to walk, Irritability, Disinhibition, Gait di... ORPHA:2356
Intellectual Developmental Disorder, Autosomal Dominant 45
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:617600
Norrie Disease
Self-injurious behavior, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphol... ORPHA:649
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca, Dysphagia, Anorexia ORPHA:178478
Duane Retraction Syndrome
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... ORPHA:233
Botulism
Mydriasis, Dysphagia ORPHA:1267
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Short attention span, Emotional lability, Dysmetria, Gait ataxia, Hyperacti... OMIM:610217
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Alternating Hemiplegia Of Childhood
Mydriasis, Oral-pharyngeal dysphagia, Anorexia, Emotional lability, Aggressive behavior, Ataxia, ... ORPHA:2131
Foodborne Botulism
Mydriasis, Dysphagia ORPHA:228371
X-Linked Cerebral Adrenoleukodystrophy
Mental deterioration, Memory impairment, Difficulty walking, Confusion, Inability to walk, Short ... ORPHA:139396
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Dysphagia, Ataxia OMIM:615510
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity OMIM:608747
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Ataxia OMIM:231550
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Histidinemia
Hyperactivity ORPHA:2157
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Self-injurious behavior, Depression, Abnormal pupil morphology, Attention ... ORPHA:534
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Attention deficit hyperactivity disorder, Ectopia pupillae OMIM:618223
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos OMIM:613150
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Congenital Fibrosis Of Extraocular Muscles
Cataract, Anisocoria, Abnormal pupil shape ORPHA:45358
Bickerstaff Brainstem Encephalitis
Confusion, Mydriasis, Anisocoria, Ataxia ORPHA:79138
Charcot-Marie-Tooth Disease Type 4C
Difficulty walking, Anisocoria, Gait ataxia, Inability to walk ORPHA:99949
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Cortical cataract, Develo... OMIM:267750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Anisocoria, Motor stereotypy OMIM:618653
Inhalational Botulism
Mydriasis ORPHA:254504
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Emotional lability, Hyperactivity OMIM:620047
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Depression, Akinesia, Obsessive-compulsive trait, Gait disturb... OMIM:234200
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Argininemia
Anorexia, Spastic gait, Hyperactivity, Irritability OMIM:207800
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Cognitive impairment ORPHA:1556
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Aggressive behavior, Hyperactivity, Ataxia, Choreoathetosis OMIM:612716
Scalp-Ear-Nipple Syndrome
Cataract, Anisocoria, Iris coloboma, Developmental cataract OMIM:181270
Pituitary Apoplexy
Confusion, Mydriasis ORPHA:95613
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Cocaine Intoxication
Delirium, Mydriasis, Mania, Agitation ORPHA:90068
Retinoblastoma
Heterochromia iridis, Leukocoria, Hypopyon, Uveitis ORPHA:790
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Irritability OMIM:259720
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Witteveen-Kolk Syndrome
Cataract, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Anisocori... OMIM:613406
Wolf-Hirschhorn Syndrome
Motor stereotypy, Rieger anomaly, Iris coloboma, Ectopia pupillae OMIM:194190
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cataract, Microcornea, Broad-based gait, Ectopia pupillae, Inability to walk, Bruxism, Abnormal p... ORPHA:261552
Retinoblastoma
Leukocoria OMIM:180200
Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Plague
Mydriasis, Depression, Conjunctival hyperemia, Anorexia, Delirium, Unsteady gait ORPHA:707
Scorpion Envenomation
Mydriasis, Restlessness, Ataxia ORPHA:466677
Mowat-Wilson Syndrome
Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, 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
Cataract, Microcoria, Congenital aphakia ORPHA:93357
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727

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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