Gene Summary

Name:
AT-rich interaction domain 4B
Synonyms:
RBBP1L1,  SAP180,  Rbp1l1,  BRCAA1,  6720480E17Rik,  6330417L24Rik

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
decreased total body fat amount Arid4btm1b(EUCOMM)Wtsi HET Early adult 2.87×10-11
increased thigmotaxis Arid4btm1b(EUCOMM)Wtsi HET Early adult 9.74×10-06
preweaning lethality, incomplete penetrance Arid4btm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased lean body mass Arid4btm1b(EUCOMM)Wtsi HET Early adult 7.37×10-06
increased bone mineral density Arid4btm1b(EUCOMM)Wtsi HET Early adult 6.77×10-07
abnormal retina morphology Arid4btm1b(EUCOMM)Wtsi HET Early adult 3.90×10-05
hyperactivity Arid4btm1b(EUCOMM)Wtsi HET Early adult 3.31×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote 0.0% (0 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Inner ear N/A heterozygote 0.0% (0 of 2)
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Notochord N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Outflow tract N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
Pharynx N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 2)
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 50% (1 of 2)
Upper leg N/A heterozygote Ambiguous
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium Ambiguous
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
femur pre-cartilage condensation Ambiguous
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
gut Ambiguous
handplate 0.0%
head 0.0%
head mesenchyme Ambiguous
heart 0.0%
heart ventricle Ambiguous
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
intestine Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
mesonephros of female Ambiguous
mesonephros of male Ambiguous
metanephros Ambiguous
midbrain 0.0%
nasal septum Ambiguous
nose Ambiguous
notochord Ambiguous
oral cavity 0.0%
outflow tract Ambiguous
pancreas Ambiguous
pericardium Ambiguous
pharynx Ambiguous
radius-ulna pre cartilage condensation Ambiguous
rib pre-cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
stomach Ambiguous
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation Ambiguous
tongue Ambiguous
trachea Ambiguous
trunk mesenchyme Ambiguous
umbilical artery embryonic part Ambiguous
umbilical vein embryonic part Ambiguous
upper arm Ambiguous
upper leg Ambiguous
urinary system Ambiguous
vibrissa Ambiguous

Associated Images

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

MicroCT E18.5

Embryo reconstruction

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of right eye

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of left fundus

17 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

4 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Human diseases caused by Arid4b 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 Arid4b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration, Decreased body weight OMIM:616311
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Schizophrenia 15
Hyperactivity OMIM:613950
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Polyphagia, Obesity OMIM:618406
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... OMIM:239100
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... OMIM:136300
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Optic atrophy, Craniosynostosis ORPHA:178377
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Opt... ORPHA:3152
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity ORPHA:75858
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... OMIM:122860
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Elbow flexion contracture, Abnormal repetitive... OMIM:619470
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Recessive 9
Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture OMIM:620366
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Increased bone mineral density, Recurrent fractures, Optic atrophy, Osteopetrosis OMIM:611490
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... OMIM:239000
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Optic atrophy, Osteopetrosis, Pa... OMIM:259700
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal dental e... ORPHA:1782
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Increased bone mineral density, Delayed patellar ossification, Abnormal bone ... ORPHA:163649
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... OMIM:614856
Spondyloepiphyseal Dysplasia Tarda
Retinal detachment, Increased bone mineral density, Osteoarthritis of the distal interphalangeal ... ORPHA:93284
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... OMIM:133780
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Optic atrophy, Osteopetrosis OMIM:615085
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... OMIM:620141
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
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
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Optic atrophy... OMIM:259710
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... ORPHA:77297
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Werner Syndrome
Abnormality of retinal pigmentation, Increased bone mineral density, Lipodystrophy, Lipoatrophy, ... ORPHA:902
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Autoimmune Hypoparathyroidism
Irritability, Increased bone mineral density, Depression ORPHA:36913
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Anorexia, Osteoarthritis, Osteolysis, Pathologic frac... ORPHA:77259
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O... OMIM:618476
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits ORPHA:3352
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Diaphyseal sclerosis, Depression, Irritability, Increased bone de... ORPHA:94089
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Choroidal neovascularization, Retinal crystals, Optic neuropathy,... OMIM:259900
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Joint stiffness, Dense calvaria, Hernia, Dysphagia, Rod-cone dystrophy OMIM:252930
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Increased bone mineral density, Cranial hyperostosis, Optic atrophy, Irritabil... OMIM:259720
Poems Syndrome
Sclerosis of hand bone, Papilledema, Lipodystrophy, Sclerosis of foot bone, Weight loss, Sclerosi... ORPHA:2905
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t... OMIM:224300
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Inguinal hernia, Joint stiffness, Umbilical hernia, Dense calvaria OMIM:252900
Kenny-Caffey Syndrome, Type 2
Papilledema, Increased bone mineral density, Small for gestational age, Retinal calcification, Th... OMIM:127000
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injurious behavi... ORPHA:449291
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity, Decreased body weight OMIM:608747
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... ORPHA:33364
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Obesity, Depression, Irritability, Ectopic ossification, Enamel h... ORPHA:79444
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Dense calvaria, Aggressive behavior, Joint stiffness OMIM:252920
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Obesity, Depression, Reduced bone mineral density, Irritability, ... ORPHA:79443
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Desmosterolosis
Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Polydipsia ORPHA:35687
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Optic nerve compression OMIM:259730
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal s... ORPHA:90652
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Primary Hyperoxaluria
Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Generalized osteosclerosis,... ORPHA:416
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Lipo... ORPHA:79474
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
12Q14 Microdeletion Syndrome
Osteopoikilosis, Failure to thrive ORPHA:94063
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Enamel hypoplasia, Subperiost... OMIM:259775
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic nerve compression, Optic atrophy, Osteopetrosis OMIM:612301
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Inguinal hernia, Failure to thrive in i... ORPHA:904
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis ORPHA:2323
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... OMIM:119600
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Sclerosteosis 1
Papilledema, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial hyperostosis, C... OMIM:269500
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Recurrent fractures, Abnormal retinal morphology, Optic atrophy, Osteopetrosis, ... ORPHA:2785
Histidinemia
Hyperactivity ORPHA:2157
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Optic nerve c... ORPHA:667
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Failure to thrive, Increased density of long bones, Thickened cortex of ... OMIM:269150

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 Arid4b

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 Arid4b.

No publications found that use IMPC mice or data for Arid4b.

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
Arid4btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Arid4btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Arid4btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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