Gene Summary

Name:
AT rich interactive domain 4B (RBP1-like)
Synonyms:
RBBP1L1,  SAP180,  Rbp1l1,  BRCAA1,  6330417L24Rik,  6720480E17Rik

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
increased bone mineral density Arid4btm1b(EUCOMM)Wtsi HET Early adult 2.60×10-06
hyperactivity Arid4btm1b(EUCOMM)Wtsi HET Early adult 3.31×10-06
decreased total body fat amount Arid4btm1b(EUCOMM)Wtsi HET Early adult 2.19×10-10
increased thigmotaxis Arid4btm1b(EUCOMM)Wtsi HET Early adult 9.74×10-06
increased lean body mass Arid4btm1b(EUCOMM)Wtsi HET Early adult 5.41×10-06
preweaning lethality, incomplete penetrance Arid4btm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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 0.72% (4 of 555)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cecum 5.65% (20 of 354)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
mesenteric lymph node 0.34% (1 of 294)
olfactory lobe 0.37% (2 of 543)
oral epithelium 0.0%
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vas deferens 4.49% (16 of 356)
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 2.04% (1 of 49)
axial skeleton 2.38% (1 of 42)
brain 1.74% (6 of 344)
central nervous system ganglion 2.17% (1 of 46)
cranium 0.0%
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
external ear 2.13% (1 of 47)
eye 0.0%
femur pre-cartilage condensation 0.0%
footplate 0.28% (1 of 358)
forearm 0.0%
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
gut 2.56% (1 of 39)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
head mesenchyme 2.5% (1 of 40)
heart 0.27% (1 of 366)
heart ventricle 0.0%
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
humerus pre-cartilage condensation 0.0%
inner ear 0.0%
intestine 2.33% (1 of 43)
liver 0.3% (1 of 338)
lower leg 0.0%
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
mesonephros of female 3.12% (1 of 32)
mesonephros of male 0.0%
metanephros 2.63% (1 of 38)
midbrain 0.28% (1 of 354)
nasal septum 2.13% (1 of 47)
nose 1.89% (1 of 53)
notochord 2.38% (1 of 42)
oral cavity 0.0%
outflow tract 0.0%
pancreas 2.44% (1 of 41)
pericardium 2.38% (1 of 42)
pharynx 2.78% (1 of 36)
radius-ulna pre cartilage condensation 2.33% (1 of 43)
rib pre-cartilage condensation 2.44% (1 of 41)
skeleton 1.79% (1 of 56)
skin 0.29% (1 of 348)
spinal cord 0.0%
stomach 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.38% (1 of 42)
trachea 2.17% (1 of 46)
trunk mesenchyme 2.86% (1 of 35)
umbilical artery embryonic part 0.0%
umbilical vein embryonic part 0.0%
upper arm 0.48% (1 of 210)
upper leg 0.49% (1 of 204)
urinary system 0.0%
vibrissa 0.0%

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

VIP of right fundus

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

MicroCT E18.5

Embryo reconstruction

9 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

4 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, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Buschke-Ollendorff Syndrome
Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture OMIM:166700
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis ORPHA:1879
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Melorheostosis
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Ectopic ossificati... ORPHA:2485
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased body weight, Hyperactivity OMIM:608747
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Ankle flexion contracture, Hyperactivity, Irritability OMIM:616657
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior OMIM:604317
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior OMIM:619970
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Osteoporosis, Umbilical hernia, Joint hype... OMIM:614856
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Glycine Encephalopathy
Hyperactivity, Impulsivity, Aggressive behavior, Irritability OMIM:605899
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior OMIM:309548
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior ORPHA:100973
Phenylketonuria
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... OMIM:261600
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Aggressive behavior OMIM:609425
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Depression, Anxiety, Enamel hypoplasia, Inc... ORPHA:94089
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Hyperactivity, Elbow flexion contracture OMIM:619470
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Abnormal aggressive, impulsive or violent ... ORPHA:3077
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Bipolar affective disorder OMIM:619927
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior OMIM:239500
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity OMIM:301013
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Joint hypermobility, Abnormal cortical bone mo... OMIM:300831
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... OMIM:619827
Lennox-Gastaut Syndrome
Personality disorder, Hyperactivity, Aggressive behavior ORPHA:2382
Autoimmune Hypoparathyroidism
Depression, Anxiety, Increased bone mineral density, Irritability ORPHA:36913
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior OMIM:619467
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis... OMIM:259700
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Joint hypermobility, Irritability ORPHA:251383
Landau-Kleffner Syndrome
Impulsivity, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity disorder, Aggres... ORPHA:98818
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Dysosteosclerosis
Abnormal dental enamel morphology, Recurrent fractures, Increased bone mineral density, Coarse me... ORPHA:1782
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... ORPHA:93284
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexion contracture, Cachexia, ... ORPHA:77297
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Chromosome Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior ORPHA:101039
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Recurrent fractures, Increased bone mineral density, Osteopenia, Ankylosis, Os... OMIM:239000
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Osteoarthritis, Arthritis, Generali... ORPHA:53
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:271980
Juvenile Huntington Disease
Depression, Weight loss, Hyperactivity, Irritability ORPHA:248111
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Happy demeanor, Inappropriate laughter, Hyperactivity ORPHA:411515
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Hyperactivity, Inguinal hernia, Depression, Anxiety, Aggressive behavior... ORPHA:485350
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Slender build, Sclerosis of skull base, Cortical thickening ... OMIM:131300
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Joint hypermobility OMIM:300143
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Tricho-Dento-Osseous Syndrome
Enamel hypomineralization, Increased bone mineral density, Dental enamel pits ORPHA:3352
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Werner Syndrome
Slender build, Joint stiffness, Lipoatrophy, Increased bone mineral density, Chondrocalcinosis, O... ORPHA:902
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Joint laxity ORPHA:457260
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Enamel hypoplasia, Generalized osteoscl... ORPHA:763
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Graves Disease, Susceptibility To, 1
Weight loss, Hyperactivity, Irritability OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Finger joint hypermobility, Anxiety, Limited elbow extension, Attention deficit hy... OMIM:301069
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Schwartz-Jampel Syndrome
Hip contracture, Joint stiffness, Decreased body weight, Increased bone mineral density, Inguinal... ORPHA:800
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hyperactivity, Aggressive behavior, Dense calvaria OMIM:252920
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior ORPHA:369939
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior OMIM:612716
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Lipodystrophy, Weight loss, Sclerosis of hand bone ORPHA:2905
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... OMIM:224300
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hyperactivity, Inguinal hernia, Dense calvaria, Umbilical hernia OMIM:252900
Gaucher Disease Type 1
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis ORPHA:77259
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Congenital diaphragmatic hernia, Self-mutilation, Camptodactyly... ORPHA:412035
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Depression, Ectopic ossification, Anxiety, Enamel hypoplasia, Obe... ORPHA:79444
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... ORPHA:449291
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced bone mineral density, Depression, Ectopic ossification, A... ORPHA:79443
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Decreased osteoclast count, Osteopetrosis, Cranial hyperostosis, ... OMIM:259720
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Desmosterolosis
Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
X-Linked Hypophosphatemia
Cellulitis, Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, Ge... ORPHA:89936
Otopalatodigital Syndrome Type 2
Failure to thrive, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmenta... ORPHA:90652
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Inguinal hernia, Increased bone mineral density, Osteopetrosis, Joint hyperflexi... ORPHA:2658
Trichothiodystrophy
Multiple joint contractures, Increased bone mineral density, Craniosynostosis, Osteopenia, Enamel... ORPHA:33364
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Depression, ... ORPHA:355
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Osteomyelitis, Hyperactivity, Self-mutilation, Emotional lability OMIM:256800
X-Linked Creatine Transporter Deficiency
Cachexia, Hyperactivity, Joint hyperflexibility, Self-mutilation ORPHA:52503
X-Linked Adrenoleukodystrophy
Inappropriate sexual behavior, Hyperactivity, Attention deficit hyperactivity disorder, Disinhibi... ORPHA:43
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hyperactivity, Hernia, Dense calvaria OMIM:252930
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Raine Syndrome
Enamel hypoplasia, Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiost... OMIM:259775
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Lipoatrophy, Increased bone mineral density, Reduced bo... ORPHA:79474
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Erdheim-Chester Disease
Osteomyelitis, Weight loss, Osteolysis, Increased bone mineral density ORPHA:35687
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density, Small for gestational age OMIM:127000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Increased susceptibility to fractures ORPHA:77261
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Abnormal dental enamel morphology ORPHA:2323
Cleidocranial Dysplasia 1
Enamel hypoplasia, Delayed pubic bone ossification, Increased bone mineral density, Increased sus... OMIM:119600
Williams Syndrome
Joint stiffness, Increased bone mineral density, Inguinal hernia, Depression, Osteopenia, Anxiety... ORPHA:904
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Pathologic fracture OMIM:259900
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Primary Hyperoxaluria
Recurrent fractures, Failure to thrive, Generalized osteosclerosis ORPHA:416
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Small for gestational age ORPHA:424
Histidinemia
Hyperactivity ORPHA:2157
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Reduced bone mineral density, Craniosynostosis ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Failure to thrive, Recurrent fractures ORPHA:2785
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Osteomyelitis, Impulsivity, Hyperactivity, Self-mutilation, Abnormal emotion/af... ORPHA:642
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Sclerosis of skull base, Thickened cortex of long bones, Increased density 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.

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MGI Allele Allele Type Produced
Arid4btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
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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