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Gene: Safb2 MGI:2146808

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Gene Summary

Name:
scaffold attachment factor B2
Synonyms:
N/A

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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
preweaning lethality, incomplete penetrance Safb2em1(IMPC)J HOM   Early adult 0.00
increased bone mineral content Safb2em1(IMPC)J HOM   Early adult 3.54×10-05
abnormal bone structure Safb2em1(IMPC)J HOM   Early adult 7.83×10-06
increased vertical activity Safb2em1(IMPC)J HOM Early adult 2.55×10-06
hyperactivity Safb2em1(IMPC)J HOM   Early adult 2.13×10-09
abnormal vocalization Safb2em1(IMPC)J HOM   Early adult 1.48×10-05
abnormal coat/hair pigmentation Safb2em1(IMPC)J HOM   Early adult 1.93×10-06
decreased total body fat amount Safb2em1(IMPC)J HOM Early adult 1.50×10-05

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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.

Eye Morphology

Images Slit Lamp

1 Images

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Electrocardiogram (ECG)

Waveform Image

10 Images

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Auditory Brain Stem Response

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

14 Images

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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 Microlithiasis
Testicular microlithiasis OMIM:610441
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Decreased testicular size OMIM:619528
Schizophrenia 15
Hyperactivity OMIM:613950
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Partington Syndrome
Macroorchidism ORPHA:94083
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia OMIM:619145
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:614840
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Spermatocyte maturation arrest, Decreased testicul... OMIM:617960
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
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Hyperactivity ORPHA:436151
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Gait ataxia, Dysphagia, Hyperactivity, Impulsivity OMIM:620448
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Coffin-Siris Syndrome 8
Self-injurious behavior, Hypertrichosis, Long eyelashes, Thick eyebrow, Inguinal hernia, Aggressi... OMIM:618362
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Osteoporosis, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Small nail, Elbow flexion contracture, Aggressive behavior, Hyperactivity, Moto... OMIM:619470
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Po... ORPHA:411515
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:614858
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... ORPHA:8
Alazami-Yuan Syndrome
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Low anterior hairline, Hirsutism, Hyperacti... OMIM:617126
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... OMIM:256710
Phenylketonuria
Fair hair, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera... OMIM:261600
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... ORPHA:33445
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Fragile X Syndrome
Macroorchidism ORPHA:908
Gand Syndrome
Tics, Inappropriate laughter, Sparse hair, Hyperactivity OMIM:615074
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Polyphagia, Hypopigmentation of the skin, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Polyphagia, Hypopigmentation of the skin, Increased adipose tissue ORPHA:71526
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
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
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism OMIM:300055
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Premature graying of hair, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laug... OMIM:620445
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue irides, Unstea... OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity, Synophrys OMIM:615541
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Hyperactivity, Blue irides, Red hair, Advanced ossification of carpal bones OMIM:614613
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ab... ORPHA:411511
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... ORPHA:91349
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Polyphagia, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Fg Syndrome 3
Fine hair, Frontal upsweep of hair, Hyperactivity, Joint contracture, Sparse hair OMIM:300406
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
Mucopolysaccharidosis, Type Iiia
Coarse hair, Dense calvaria, Umbilical hernia, Inguinal hernia, Hirsutism, Hyperactivity, Synophrys OMIM:252900
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... ORPHA:325124
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Inguinal hernia, Aggressive behavior, Attention deficit hyperactivity d... OMIM:620141
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Motor stereoty... ORPHA:228402
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Mucopolysaccharidosis, Type Iiic
Coarse hair, Dense calvaria, Hypertrichosis, Hirsutism, Hernia, Hyperactivity, Dysphagia, Synophrys OMIM:252930
Mucopolysaccharidosis, Type Iiib
Coarse hair, Dense calvaria, Hirsutism, Aggressive behavior, Hyperactivity, Synophrys OMIM:252920
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ab... ORPHA:98794
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias OMIM:618874
Mccune-Albright Syndrome
Precocious puberty, Increased circulating prolactin concentration, Goiter, Ovarian cyst, Hyperpla... ORPHA:562
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Classic Phenylketonuria
Self-injurious behavior, Attention deficit hyperactivity disorder, Hypopigmentation of the skin, ... ORPHA:79254
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Ataxia OMIM:172850
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Tongue thr... ORPHA:98795
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Inability to walk, Hypopigmentation of hair, Dysphagia, Ataxia ORPHA:70472
Ataxia-Telangiectasia
Premature graying of hair, Gait disturbance, Multiple cafe-au-lait spots, Ataxia, Hypopigmentatio... ORPHA:100
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Goiter, Pituitary hypothyroidism, Macroorchidism, ... ORPHA:90674
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Osteopetrosis, Cafe-au-lait spot OMIM:618541
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Muenke Syndrome
Coronal craniosynostosis, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin pat... ORPHA:53271
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Hernia, Gait disturbance, Camptodactyly, Oste... ORPHA:90354
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Abnormal temper tantrums, Hypopigmentation of the skin, Hypopigmentation of hair, Pol... ORPHA:398069
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Osteopenia, Abnormal temper tantrums, Hypopigmentation of the skin, Iris... ORPHA:98793
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Osteopenia, Abnormal temper tantrums, Hypopigmentation of the skin, Iris... ORPHA:177904
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Nail dystrophy, Self-mutilation, Nail dysplasia, Hyperactivity, Sparse scalp hair OMIM:256800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Osteopenia, Abnormal temper tantrums, Hypopigmentation of the skin, Iris... ORPHA:177901
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Osteopenia, Abnormal temper tantrums, Hypopigmentation of the skin, Iris... ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Abnormal temper tantrums, Hypopigmentation of the skin, Polyphagia, Skin-picking, Ost... ORPHA:398079
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Polyphagia OMIM:609734
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... ORPHA:3322
Squalene Synthase Deficiency
Elbow flexion contracture, Abnormality of hair pigmentation, Knee flexion contracture OMIM:618156
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Brittle Cornea Syndrome 1
Red hair, Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Hypopigmentation of hair, Abnormality of hair texture, Overfri... ORPHA:96169
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Gait dist... OMIM:214500
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Abnormal temper tantrums, Hypopigmentation of the skin, Head-banging, Skin... ORPHA:177907
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of the skin, Polyphagia, Attention deficit hyperactivity disorder, O... ORPHA:739
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Abnormal dental enamel morp... ORPHA:79430
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Ocular albinism, Inguinal hernia, Ataxia, Hypopigmentation of hair, Athetosis ORPHA:2719
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Hernia, Woolly h... ORPHA:565
Proteus Syndrome
Long penis, Thymus hyperplasia, Enlarged polycystic ovaries, Testicular neoplasm, Macroorchidism,... ORPHA:744
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Aspartylglucosaminuria
Macroorchidism OMIM:208400
Syndromic Diarrhea
Trichorrhexis nodosa, Inguinal hernia, Uncombable hair, Generalized hypopigmentation, Brittle hai... ORPHA:84064
Degcags Syndrome
Osteopenia, Hypopigmentation of the skin, Oral-pharyngeal dysphagia, Premature graying of hair, H... OMIM:619488
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Inability to walk,... ORPHA:167
Histidinemia
Hyperactivity ORPHA:2157
Vici Syndrome
Hypopigmentation of the skin, Ocular albinism, Albinism, Hypopigmentation of hair, Dysphagia OMIM:242840
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Polydipsia, Rickets, Retinal pigment epithe... OMIM:219800
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Atte... ORPHA:818
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974

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.

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
Safb2em1(IMPC)J Exon Deletion Mice

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