Gene: Safb2 MGI:2146808

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Gene Summary

Name:
scaffold attachment factor B2
Synonyms:
N/A

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
preweaning lethality, incomplete penetrance Safb2em1(IMPC)J HOM   Early adult 0.00
increased bone mineral content Safb2em1(IMPC)J HOM   Early adult 3.40×10-05
increased vertical activity Safb2em1(IMPC)J HOM Early adult 7.31×10-07
hyperactivity Safb2em1(IMPC)J HOM Early adult 2.13×10-09
abnormal bone structure Safb2em1(IMPC)J HOM   Early adult 4.52×10-06
decreased total body fat amount Safb2em1(IMPC)J HOM Early adult 5.21×10-06

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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.

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

14 Images

Human diseases caused by Safb2 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 Safb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Familial Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligospermia ORPHA:3000
Immunodeficiency 8
Hyperactivity OMIM:615401
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Abnormal sp... ORPHA:1646
Partington Syndrome
Macroorchidism ORPHA:94083
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614840
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... OMIM:616425
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis OMIM:616030
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size OMIM:614858
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism OMIM:300055
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Fragile X Syndrome
Macroorchidism ORPHA:908
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Non-Functioning Pituitary Adenoma
Panhypopituitarism, Abnormality of the pituitary gland, Male hypogonadism, Increased circulating ... ORPHA:91349
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Macroorchidism, Abnormality of female external genitalia, Female external ... ORPHA:90790
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Inguinal hernia, Hip contracture, Knee flexion contracture, Hyperactivity, O... OMIM:616809
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Mccune-Albright Syndrome
Ovarian cyst, Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration,... ORPHA:562
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Ck Syndrome
Abnormal cortical bone morphology, Hyperactivity OMIM:300831
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Reduced intraabdominal adipose tissue, Ataxia, Limb dystonia, Hyperactivity, Reduced... ORPHA:363400
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Macroorchidism, postpubertal, Ambiguous genitalia... ORPHA:91
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Micropenis, Hypogonadotropic hypogonadism, Testicu... OMIM:228300
Trisomy 20P
Cryptorchidism, Macroorchidism, Hypospadias ORPHA:261318
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity OMIM:618342
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Macroorchidism, Pituitary hypothyroidism, Increased circulating prolactin concentration, ... ORPHA:90674
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Hyper... OMIM:614294
Coffin-Siris Syndrome 7
Hyperactivity, Sagittal craniosynostosis OMIM:618027
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Gand Syndrome
Hyperactivity OMIM:615074
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hyperactivity ORPHA:88616
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Hyperactivity OMIM:252900
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Unsteady gait, Inguinal hernia, Hyperactivity ORPHA:485350
Mucopolysaccharidosis, Type Iiic
Hernia, Dense calvaria, Hyperactivity OMIM:252930
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Hyperactivity OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Mucopolysaccharidosis, Type Iiib
Dense calvaria, Hyperactivity OMIM:252920
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Flexion contracture, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Ataxia, Hyperactivity OMIM:601853
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Ataxia, Hyperactivity OMIM:614104
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Congenital finger flexion contractures, Hyperactivity ORPHA:166108
Inverted Duplicated Chromosome 15 Syndrome
Hernia, Hyperactivity ORPHA:3306
Mend Syndrome
Hyperactivity OMIM:300960
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Hyperactivity ORPHA:412035
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity OMIM:609727
19P13.3 Microduplication Syndrome
Osteoporosis, Hyperactivity ORPHA:447980
2Q23.1 Microdeletion Syndrome
Ataxia, Hyperactivity ORPHA:228402
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Reduced bone mineral density, Hernia, Hyperactivity OMIM:617052
Histidinemia
Hyperactivity ORPHA:2157
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Hamstr... ORPHA:139396
Glass Syndrome
Camptodactyly, Inguinal hernia, Broad-based gait, Hyperactivity OMIM:612313
Proteus Syndrome
Ovarian neoplasm, Long penis, Macroorchidism, Testicular neoplasm, Thymus hyperplasia, Enlarged p... ORPHA:744
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Gait disturbance, Ataxia, Hyperactivity ORPHA:168491
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:391307
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Mucopolysaccharidosis, Type Iiid
Flexion contracture, Hyperactivity OMIM:252940
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Ataxia, Hyperactivity ORPHA:98794
Adenylosuccinase Deficiency
Inability to walk, Gait ataxia, Hyperactivity OMIM:103050
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Angelman Syndrome
Progressive gait ataxia, Broad-based gait, Hyperactivity OMIM:105830
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Hyperactivity OMIM:256800
Aspartylglucosaminuria
Macroorchidism OMIM:208400
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:449291
Hyperlysinemia
Tip-toe gait, Craniosynostosis, Dysmetria, Hyperactivity ORPHA:2203
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Inguinal hernia, Myelofibrosis, Attention deficit hyperactivity disorder, Hyperactivity OMIM:607721
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Mucopolysaccharidosis Type 2
Umbilical hernia, Inguinal hernia, Flexion contracture of digit, Hyperactivity, Abnormal epiphyse... ORPHA:580
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Hyperactivity ORPHA:447997
Choreoacanthocytosis
Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inability to walk,... ORPHA:2388

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 Safb2

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 Safb2.

No publications found that use IMPC mice or data for Safb2.

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MGI Allele Allele Type Produced
Safb2em1(IMPC)J Exon Deletion Mice

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