Gene Summary

Name:
splicing factor 3b, subunit 3
Synonyms:
SAP130,  RSE1,  D8Ertd633e,  5730409A01Rik,  1810061H24Rik

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
hyperactivity Sf3b3em1(IMPC)J HET Early adult 7.34×10-06
decreased thigmotaxis Sf3b3em1(IMPC)J HET Early adult 1.11×10-05
abnormal behavior Sf3b3em1(IMPC)J HET Early adult 1.11×10-05
increased grip strength Sf3b3em1(IMPC)J HET   Early adult 9.48×10-05
abnormal cornea morphology Sf3b3em1(IMPC)J HET Early adult 7.38×10-05
abnormal coat/hair pigmentation Sf3b3em1(IMPC)J HET Early adult 6.37×10-12
embryonic lethality prior to organogenesis Sf3b3em1(IMPC)J HOM   E9.5 0.00
abnormal vocalization Sf3b3em1(IMPC)J HET Early adult 2.37×10-10
preweaning lethality, complete penetrance Sf3b3em1(IMPC)J HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

3 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Sf3b3 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 Sf3b3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Abnorma... ORPHA:42665
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Aggressive behavior, Developmental cataract, Gait ataxia, Fair hair OMIM:618808
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Phenylketonuria
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Cataract, Anxiety... OMIM:261600
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... ORPHA:170
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Immunodeficiency 8
Hyperactivity OMIM:615401
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... ORPHA:1067
Urocanase Deficiency
Blue irides, Ataxia, Aggressive behavior, Fair hair OMIM:276880
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hypopigmentation of the skin, Hyperactivity, Ataxia, Iris... ORPHA:411515
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Cafe-au-lait spot ORPHA:436151
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism, Cataract ORPHA:85288
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Yemenite Deaf-Blind Hypopigmentation Syndrome
Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmente... OMIM:601706
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Morm Syndrome
Hyperactivity, Aggressive behavior, Cataract ORPHA:75858
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Long eyelashes, Hyperactivity, Thick eyebrow, Spars... OMIM:618362
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Ataxia, Irregular ... ORPHA:2885
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Chromosome Xq25 Duplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Hyperactivity, Thick eyebrow, Anxiety OMIM:300979
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Waardenburg Syndrome, Type 2A
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... OMIM:193510
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:607624
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity, Aggressive behavior OMIM:248510
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety, Sparse eyebrow, Highly arched eyebrow ORPHA:521258
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, Ataxia, White for... OMIM:277580
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Alazami-Yuan Syndrome
Highly arched eyebrow, Hirsutism, Low anterior hairline, Long eyelashes, Hyperactivity, Thick eye... OMIM:617126
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Intellectual Developmental Disorder, X-Linked 104
Frontal upsweep of hair, Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Heterochromia iridis, White forelock, Hypopigmentation of hair, Prema... ORPHA:895
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of the skin, Ataxia, Hypopigmentation of hair, Pr... ORPHA:33445
Elejalde Disease
Silver-gray hair, Hypopigmentation of the skin, Ataxia, Accumulation of melanosomes in melanocyte... OMIM:256710
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Synophrys OMIM:615541
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Nail dystrophy, Self-mutilation, Sparse scalp hair, Keratitis, Hyperactivity, E... OMIM:256800
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Classic Phenylketonuria
Self-injurious behavior, Hypopigmentation of the skin, Cataract, Attention deficit hyperactivity ... ORPHA:79254
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... ORPHA:3077
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Small nail, Broad-based gait OMIM:619470
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, Ataxia, White fore... ORPHA:2884
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Aggressive behavior, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys OMIM:617773
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait OMIM:615516
Griscelli Syndrome Type 1
Partial albinism, White hair, Ataxia, Iris hypopigmentation, Premature graying of hair ORPHA:79476
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Gand Syndrome
Hyperactivity, Sparse hair, Inappropriate laughter OMIM:615074
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Cataract, Sparse sca... ORPHA:3437
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Gait disturbance, Freckling, Hyperpigmentation of the skin, Iris colo... ORPHA:3214
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hirsutism OMIM:300434
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Highly arched eyebrow OMIM:618342
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... ORPHA:137599
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... ORPHA:894
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Aggressive behavior, Ataxia OMIM:612716
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Inappropriate laughter, Hypopigmentation of the skin, Ataxia, Iri... ORPHA:411511
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity, Fair hair, Red hair OMIM:614613
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177910
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Hyperactivity, Thick eyebrow, Broad-based gait, Unsteady gait OMIM:617865
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Brittle Cornea Syndrome 1
Decreased corneal thickness, Keratoglobus, Abnormal cornea morphology, Keratoconus, Red hair OMIM:229200
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter OMIM:618718
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Synophrys OMIM:615824
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Inappropriate laughter, Hypopigmentation of the skin, Hyperactivi... ORPHA:98794
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Alopecia, Hyperactivity, Ataxia, Opacification of the corneal stroma, De... OMIM:601853
Cln5 Disease
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... ORPHA:228360
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity, Ata... ORPHA:228402
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Synophrys, Impulsivity OMIM:300143
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Onycholysis OMIM:275000
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Astigmatism, Hypopi... OMIM:203100
Rubinstein-Taybi Syndrome 2
Hyperactivity, Long eyelashes, Hirsutism OMIM:613684
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Ataxia-Telangiectasia
Gait disturbance, Ataxia, Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature grayin... ORPHA:100
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability OMIM:300831
Coffin-Siris Syndrome 7
Thick eyebrow, Hyperactivity, Hypoplastic fifth toenail, Sparse scalp hair OMIM:618027
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Inability to walk, Hypopigmentation of hair, Generalized dystonia ORPHA:70472
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, Self-mutilation, Inappropriate laughter, Hyperopic astigmatism, Hyperactivity, Low fru... ORPHA:363686
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Hypopigmentation of the skin, Melanocytic nevus, ... ORPHA:79434
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Mucopolysaccharidosis, Type Iiib
Hirsutism, Aggressive behavior, Coarse hair, Hyperactivity, Synophrys OMIM:252920
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Hyperactivity, Developmental cataract OMIM:616809
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention defic... ORPHA:1929
Brittle Cornea Syndrome
Decreased corneal thickness, Gait disturbance, Corneal erosion, Corneal scarring, Keratoglobus, C... ORPHA:90354
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Hyperopic astigmatism ORPHA:397973
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Hypopigmentation of the skin, Iris hypopigmentation, Broad-based gait, Hypopigmen... ORPHA:98795
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Synophrys OMIM:613192
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Cataract, A... OMIM:123450
Myoclonic-Astatic Epilepsy
Frontal balding, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, ... ORPHA:1942
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Aggressive behavior, Inappropriate laughter, Hypopigment... ORPHA:72
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Premature graying of hair ORPHA:79477
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... ORPHA:168491
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Angelman Syndrome
Blue irides, Paroxysmal bursts of laughter, Progressive gait ataxia, Hypopigmentation of the skin... OMIM:105830
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Generalized hirsutism, Gait ataxia, Limb dystonia ORPHA:363400
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior, Highly arched eyebrow OMIM:600430
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Synophrys ORPHA:391307
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Waardenburg Syndrome
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... ORPHA:3440
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Coarse hair, Hirsutism, Synophrys OMIM:252900
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... ORPHA:43
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low anterior hairline, Aggressive behavior, Horizontal eyebrow, Hyperactivity, Ataxia, Frontal up... ORPHA:369891
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... OMIM:103050
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Synophrys, Self-biting ORPHA:3306
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Emotional lability, Impulsivity, Unsteady gait ORPHA:35069
Chromosome 10Q26 Deletion Syndrome
Small nail, Aggressive behavior, Hyperactivity, Broad-based gait, Low posterior hairline OMIM:609625
Glass Syndrome
Happy demeanor, Aggressive behavior, Hyperactivity, Nail dysplasia, Broad-based gait, Sparse hair OMIM:612313
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Squalene Synthase Deficiency
Irritability, Abnormality of hair pigmentation OMIM:618156
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia OMIM:300354
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Thick eyebrow, Anxiety, Attention deficit hyperactivity disorder, Na... ORPHA:485405
Smith-Magenis Syndrome
Hyperactivity, Self-mutilation, Head-banging, Synophrys OMIM:182290
Mend Syndrome
Hyperactivity, Cataract OMIM:300960
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional lability, Impulsi... OMIM:610217
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Waardenburg Syndrome, Type 2E
Blue irides, Hypopigmented skin patches, Hypoplasia of the iris, Ocular albinism, White eyelashes... OMIM:611584
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... OMIM:613266
Oculocerebral Hypopigmentation Syndrome, Cross Type
Athetosis, Ocular albinism, Ataxia, Corneal opacity, Cataract, Iris hypopigmentation, Hypopigment... ORPHA:2719
Carney Complex, Type 1
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
Chediak-Higashi Syndrome
Gait disturbance, Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Ataxia, Iris h... OMIM:214500
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Hyperactivity, Low posterior hairline, Attention deficit hyperactivity dis... ORPHA:73272
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Anxiety, Aggressive behavior, Ataxia OMIM:618430
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Mucopolysaccharidosis, Type Iiid
Hirsutism, Coarse hair, Hyperactivity, Thick eyebrow, Synophrys OMIM:252940
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Coarse hair, Hirsutism, Synophrys OMIM:252930
Muenke Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule ORPHA:53271
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance ORPHA:163681
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Gait disturbance, Hyperactivity, Curly hair, Cafe-au-lait spot ORPHA:457485
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Shuffling gait, Hyperactivity, Low frustration tolerance, Thick eyebrow, Pat... OMIM:300534
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of hair, Ataxia, Spar... ORPHA:3322
Hypohidrotic Ectodermal Dysplasia
Keratoconjunctivitis sicca, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis n... ORPHA:238468
Bone Marrow Failure Syndrome 3
Small nail, Abnormality of skin pigmentation, Nail dystrophy, Hyperactivity, Astigmatism, Aplasia... OMIM:617052
Hermansky-Pudlak Syndrome
Partial albinism, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Melanocytic nevu... ORPHA:79430
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Hyperpigmentation of the skin, Long eyelashes, Sparse scalp hair, Hyperactivit... OMIM:607721
Mucopolysaccharidosis Type 3
Gait disturbance, Pigmentary retinopathy, Hirsutism, Loss of ambulation, Aggressive behavior, Coa... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia OMIM:300486
Oculoectodermal Syndrome
Limbal dermoid, Hyperpigmentation of the skin, Astigmatism, Hyperactivity, Opacification of the c... OMIM:600268
Prader-Willi Syndrome
Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Attention deficit h... OMIM:176270
Legius Syndrome
Dystonia, Multiple cafe-au-lait spots, Hyperactivity, Axillary freckling, Cataract, Inguinal frec... ORPHA:137605
Koolen-De Vries Syndrome
Conspicuously happy disposition, Abnormality of hair texture, Hyperactivity, Cataract, Iris hypop... OMIM:610443
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation ORPHA:412035
Prader-Willi Syndrome Due To Translocation
Skin-picking, Happy demeanor, Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of t... ORPHA:177907
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Irritability, Keratitis ORPHA:525731
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:309520
X-Linked Intellectual Disability, Cabezas Type
Aggressive behavior, Abnormal hair pattern, Hyperactivity, Broad-based gait, Synophrys ORPHA:85293
Duane Retraction Syndrome
Hypopigmented skin patches, Patchy hypopigmentation of hair, Aniridia, Hypoplastic iris stroma, I... ORPHA:233
Wiedemann-Steiner Syndrome
Aggressive behavior, Long eyelashes, Hyperactivity, Congenital, generalized hypertrichosis, Low f... ORPHA:319182
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity ORPHA:8
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Ataxia, Hypopigmen... ORPHA:163746
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Pigmentary retinopathy, Hyperpigmentation of the skin, Bradykinesia, ... OMIM:234200
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Dysmetria, Aggressive behavior, Long eyelashes, Horizontal eyebrow, Hype... ORPHA:96121
Vici Syndrome
Developmental cataract, Ocular albinism, Albinism, Hypopigmentation of the skin, Hypopigmentation... OMIM:242840
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Small nail, Hypoplastic nipples, Self-injurious behavior, Nail dystrophy, H... ORPHA:261323
White-Sutton Syndrome
Self-injurious behavior, Aggressive behavior, Vitiligo, Iris coloboma, Hyperactivity, Astigmatism ORPHA:468678
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Hypoplastic nipples, Hypermelanotic macule, Cafe-au-lait spot OMIM:618505
Koolen-De Vries Syndrome
Hypopigmentation of hair, Cataract, Abnormality of hair texture ORPHA:96169
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Hypopigmentation of hair, Hypopigmentation of the skin, Lethargy ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Skin-picking, Hypopigmentation of the skin, Impulsivity, Hypopigmentation of hair, Lethargy ORPHA:398069
Choreoacanthocytosis
Hair-pulling, Lingual dystonia, Self-injurious behavior, Loss of ambulation, Aggressive behavior,... ORPHA:2388
Ch├ędiak-Higashi Syndrome
Gait disturbance, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Ataxia, Inab... ORPHA:167
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Irritability, Lethargy ORPHA:247585
Hereditary Sensory And Autonomic Neuropathy Type 4
Decreased corneal reflex, Aplasia of the sweat glands, Corneal scarring, Self-mutilation, Hyperac... ORPHA:642
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... ORPHA:98754
Coffin-Siris Syndrome
Small nail, Hirsutism, Hypertrichosis, Hypoplastic fifth toenail, Prominent eyelashes, Low anteri... ORPHA:1465
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... ORPHA:177901
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Iris coloboma, Irritability, Anxiety, Melanocytic nevus, Attention deficit hyperacti... OMIM:619475
Hallermann-Streiff Syndrome
Fine hair, Sparse eyelashes, Sparse scalp hair, Iris coloboma, Hyperactivity, Cataract, Sparse an... OMIM:234100
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Prader-Willi-Like Syndrome
Skin-picking, Self-injurious behavior, Hypopigmentation of the skin, Iris hypopigmentation, Hypop... ORPHA:398073
Dubowitz Syndrome
Hypoplasia of the iris, Sparse lateral eyebrow, Iris coloboma, Hyperactivity, Megalocornea, Spars... OMIM:223370
Joubert Syndrome 1
Highly arched eyebrow, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia OMIM:213300
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Hyperactivity, Corneal opacity, Astigmatism, Anxiety, Breast hypoplasia ORPHA:464306
Syndromic Diarrhea
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Hypopigmentation of hair, Gener... ORPHA:84064
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Tuberous Sclerosis Complex
Self-injurious behavior, Hypomelanotic macule, Aggressive behavior, Hyperactivity, Ungual fibroma... ORPHA:805
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hyperactivity, Fair hair, Red hair ORPHA:280651
Prader-Willi Syndrome
Attention deficit hyperactivity disorder, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Smith-Lemli-Opitz Syndrome
Sclerocornea, Self-injurious behavior, Iris coloboma, Cataract, Attention deficit hyperactivity d... ORPHA:818
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait OMIM:614756
Witteveen-Kolk Syndrome
Fine hair, Aggressive behavior, Conspicuously happy disposition, Iris coloboma, Hyperactivity, Hi... OMIM:613406
Mend Syndrome
Hyperactivity, Aggressive behavior, Cataract, Spotty hypopigmentation ORPHA:401973
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Cystinosis, Nephropathic
Corneal crystals, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Pigmentary r... OMIM:219800
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Synophrys ORPHA:447997
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... ORPHA:353281
Rubinstein-Taybi Syndrome 1
Abnormal fear/anxiety-related behavior, Highly arched eyebrow, Hirsutism, Low anterior hairline, ... OMIM:180849
Histidinemia
Hyperactivity ORPHA:2157
Degcags Syndrome
Hypertrichosis, Low anterior hairline, Abnormality of skin pigmentation, Long eyelashes, Abnormal... OMIM:619488
Menkes Disease
Hypopigmentation of hair, Sparse hair, Woolly hair ORPHA:565
Early Infantile Epileptic Encephalopathy
Dystonia, Absent thumbnail, Self-injurious behavior, Hyperactivity, Episodic ataxia ORPHA:1934
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Highly arched eyebrow, Trichiasis, Corneal scarring, Self... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Highly arched eyebrow, Trichiasis, Corneal scarring, Self... ORPHA:353284
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Monosomy 22Q13.3
Hair-pulling, Long eyelashes, Hyperactivity, Thick eyebrow, Hypoplastic toenails ORPHA:48652

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 Sf3b3

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 Sf3b3.

No publications found that use IMPC mice or data for Sf3b3.

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MGI Allele Allele Type Produced
Sf3b3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sf3b3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sf3b3em1(IMPC)J Exon Deletion Mice

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