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Gene: Sf3b3 MGI:1289341

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Gene Summary

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

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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
embryonic lethality prior to organogenesis Sf3b3em1(IMPC)J HOM   E9.5 0.00
hyperactivity Sf3b3em1(IMPC)J HET Early adult 7.20×10-06
decreased thigmotaxis Sf3b3em1(IMPC)J HET Early adult 1.13×10-05
preweaning lethality, complete penetrance Sf3b3em1(IMPC)J HOM   Early adult 0.00
abnormal vocalization Sf3b3em1(IMPC)J HET Early adult 2.42×10-10
abnormal coat/hair pigmentation Sf3b3em1(IMPC)J HET Early adult 6.50×10-12
abnormal cornea morphology Sf3b3em1(IMPC)J HET Early adult 7.78×10-05
abnormal behavior Sf3b3em1(IMPC)J HET Early adult 1.13×10-05

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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 Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

2 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 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
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract, Fair hair, Aggressive behavior OMIM:618808
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b... OMIM:261600
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... OMIM:619947
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Cafe-au-lait spot ORPHA:436151
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Hirsutism ORPHA:85288
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... OMIM:601706
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Aggressive behavior, Self-injurious behavior, Long eyelashes, T... OMIM:618362
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Polyphagia, Inappropriate laughter, Hypopigmentation of ... ORPHA:411515
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior OMIM:248510
Alazami-Yuan Syndrome
Hyperactivity, Thick eyebrow, Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyela... OMIM:617126
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Iris hypopigmentation ORPHA:177910
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Classic Phenylketonuria
Hypopigmentation of hair, Cataract, Depression, Self-injurious behavior, Attention deficit hypera... ORPHA:79254
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Hyperactivity, Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal ... OMIM:256800
Gand Syndrome
Sparse hair, Hyperactivity, Tics, Inappropriate laughter OMIM:615074
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
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
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Synophrys, Aggressive behavior OMIM:615541
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... ORPHA:3437
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriate laughter, Dys... ORPHA:411511
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Hyperactivity, Fair hair, Blue irides OMIM:614613
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia ORPHA:411777
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin, Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin, Polyphagia ORPHA:71526
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Fg Syndrome 3
Sparse hair, Hyperactivity, Frontal upsweep of hair, Fine hair OMIM:300406
2Q23.1 Microdeletion Syndrome
Hyperactivity, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Generalized hirs... ORPHA:228402
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair OMIM:229200
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of retinal pigmentation, Whit... ORPHA:79432
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Hyperopic astigmatism, Fine hair, Astigmatism, Tics, Inappropriate laughter, Low f... ORPHA:363686
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Inappropriat... ORPHA:98794
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Tongue thrusting, Dysphagia, Hypopigmentation of the skin, Iris hypopig... ORPHA:98795
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Onycholysis, Polyphagia OMIM:275000
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Synophrys, Coarse hair, Hirsutism OMIM:252920
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Dysphagia ORPHA:70472
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavior, Abnormal t... ORPHA:449291
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... ORPHA:90354
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... OMIM:611584
Squalene Synthase Deficiency
Irritability, Abnormality of hair pigmentation OMIM:618156
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Polyphagia OMIM:609734
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Melanocytic nevu... ORPHA:79430
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... ORPHA:238468
Koolen-De Vries Syndrome
Hypopigmentation of hair, Cataract, Abnormality of hair texture, Overfriendliness ORPHA:96169
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... ORPHA:98793
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Hypopigmentation of hair, Head-banging, Abnormal temper tantrums, S... ORPHA:177907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Hypopigmentation of hair, Bulimia, Self-injurious behavior, Abnorma... ORPHA:98754
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Self-injurious behavior, Frontal upsweep ... OMIM:176270
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Iris hypopigmentation ORPHA:2719
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Impulsivity, Abnormal temper tantrums, Co... ORPHA:398069
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Polyphagia, Skin-picking, Abnormal temper tantrums, Hypopigmentation of... ORPHA:398079
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... ORPHA:233
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Thick eyebrow OMIM:620047
Vici Syndrome
Hypopigmentation of hair, Cataract, Albinism, Ocular albinism, Developmental cataract, Dysphagia,... OMIM:242840
Histidinemia
Hyperactivity ORPHA:2157
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Polyphagia, Attention deficit hyperactivi... ORPHA:739
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... ORPHA:84064
Cystinosis, Nephropathic
Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Dysphag... OMIM:219800
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Self-injurious beh... ORPHA:818
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Abnormal eyelas... OMIM:619488
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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