Gene Summary

Name:
ATPase family, AAA domain containing 2B
Synonyms:
D530031C13Rik,  1110014E10Rik

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
decreased circulating cholesterol level Atad2btm1b(EUCOMM)Hmgu HOM Early adult 1.05×10-08
hyperactivity Atad2btm1b(EUCOMM)Hmgu HOM Early adult 6.20×10-05
decreased circulating HDL cholesterol level Atad2btm1b(EUCOMM)Hmgu HOM Early adult 2.08×10-05
decreased exploration in new environment Atad2btm1b(EUCOMM)Hmgu HOM Early adult 8.49×10-06
abnormal contextual conditioning behavior Atad2btm1b(EUCOMM)Hmgu HOM   Early adult 6.00×10-06
abnormal auditory brainstem response Atad2btm1b(EUCOMM)Hmgu HOM   Early adult 3.62×10-05
abnormal kidney morphology Atad2btm1b(EUCOMM)Hmgu HOM Early adult 0.00
long tibia Atad2btm1b(EUCOMM)Hmgu HOM Early adult 1.72×10-11
decreased NK T cell number Atad2btm1b(EUCOMM)Hmgu HOM Early adult 1.44×10-05
abnormal motor capabilities/coordination/movement Atad2btm1b(EUCOMM)Hmgu HOM   Early adult 1.10×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Gross Pathology and Tissue Collection

Images

1 Images

Immunophenotyping

Panel B FCS file(s)

12 Images

Immunophenotyping

Panel A FCS file(s)

12 Images

Human diseases caused by Atad2b 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 Atad2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia OMIM:238700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity of the femur... OMIM:610539
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Talipes equinovarus, Facial palsy, Abnormal auditory e... OMIM:601382
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, EEG abnormality, Prolinuria... OMIM:239500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Squalene Synthase Deficiency
Posteriorly rotated ears, Optic nerve hypoplasia, Hypospadias, Increased circulating farnesol con... OMIM:618156
Landau-Kleffner Syndrome
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... ORPHA:98818
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Hypocholesterolemia, Abnormal repetiti... OMIM:610883
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... OMIM:605899
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoac... OMIM:234500
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Elevated urinary phenylpyruvic acid level, Increas... OMIM:261600
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves, Mental dete... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, EEG with generalized epileptifo... OMIM:619827
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Hypertriglyceridemia OMIM:615924
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Tapered finger, Long fingers, Low-s... OMIM:609425
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Intellectual Developmental Disorder, X-Linked 101
Clinodactyly, Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Long fibula, Cognitive impairment, Abnormal metaphysis morphology, Lymphop... ORPHA:935
Rasmussen Subacute Encephalitis
Hyperactivity, Increased theta frequency activity in EEG, EEG with focal epileptiform discharges,... ORPHA:1929
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Steatorrhea, ... OMIM:266510
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Sandal gap, Aggressive behavior, Diminished ability to concentrate, Recurrent hand... OMIM:615516
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... ORPHA:96180
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Depression, Self-injurious behavior, Comp... OMIM:619467
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, Preaxial polydactyly, EEG wi... ORPHA:163681
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive... OMIM:615541
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... OMIM:250220
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Brachydactyly, Self hugging, Head-banging, EEG abnormality, ... OMIM:182290
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... OMIM:620141
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Autoimmune thrombocytopenia, Metata... OMIM:301069
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Alg12-Cdg
Hyponatremia, Abnormal pinna morphology, Hypospadias, Sandal gap, Proximal placement of thumb, Lo... ORPHA:79324
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, EEG abnormality, Inappropriate laughter, Polyphagia ORPHA:411515
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia, Steatorrhea OMIM:607765
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
Chylomicron Retention Disease
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Dubowitz Syndrome
Syndactyly, Hyperactivity, Short attention span, Aplastic anemia, Hypospadias, Protruding ear, Ac... OMIM:223370
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, EEG with photoparoxysmal respo... ORPHA:168491
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Irritability, Macrotia, Abno... ORPHA:391307
Optic Atrophy 11
Hyperactivity, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Splenomegaly,... OMIM:617302
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso... OMIM:301013
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hypocholesterolemia OMIM:618810
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Hypoalbuminemi... OMIM:270400
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly... OMIM:620242
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Broad finger, Abnormal auditory evoked potentials OMIM:617523
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural h... ORPHA:73272
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials, Coxa valga OMIM:109120
Mend Syndrome
Hyperactivity, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Aggressive beh... ORPHA:401973
X-Linked Adrenoleukodystrophy
Hyperactivity, Neurogenic bladder, Aggressive behavior, Progressive hearing impairment, Disinhibi... ORPHA:43
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence,... ORPHA:101085
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, Steatorrhea, ... OMIM:212065
Arthrogryposis, Distal, Type 2A
Hip contracture, Shoulder flexion contracture, Abnormal auditory evoked potentials, Hearing impai... OMIM:193700
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hyperactivity, Abnormal pelvis bone morphology, Glenoid fossa hypoplasia, I... ORPHA:239
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Irregul... OMIM:619260
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Cerebrotendinous Xanthomatosis
Optic disc pallor, Short attention span, Abnormal auditory evoked potentials, Aggressive behavior... ORPHA:909
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Progressive language deterioration, Attentio... OMIM:610042
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Sensorineu... ORPHA:760
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Heparan sulfate excreti... OMIM:252920
Infantile Krabbe Disease
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... ORPHA:206436
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Macrotia, Depression, Self-injurious be... ORPHA:449291
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester... ORPHA:14
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Urinary incontinence, Progressive neurologic dete... ORPHA:206448
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Congenital hip dislocation, Abnormal pinna morphology, Metatarsus adductus, Lo... OMIM:244450
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Facial diplegia, Hypocholesterolemia, Thrombocy... ORPHA:31150
Insulin-Like Growth Factor I Deficiency
Clinodactyly of the 5th finger, Short attention span, Hyperactivity, Sensorineural hearing impair... OMIM:608747
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... OMIM:610442
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... OMIM:271665
Trisomy 10P
Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst ... ORPHA:171929
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Arachnodactyly, Attention deficit hyperactivity disorder, Recurrent hand flapping,... OMIM:617600
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Irritability OMIM:616881
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Urinary incontinence, Sensorineural hearing impairment, Urinary hesitancy, Urinary... OMIM:609727
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Optic atrophy, Anemia, Inc... ORPHA:90321
Cockayne Syndrome A
Hip contracture, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory e... OMIM:216400
Legius Syndrome
Short attention span, Hyperactivity, Acute monocytic leukemia, Nephrolithiasis, Diaphyseal dyspla... ORPHA:137605
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Cockayne Syndrome B
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... OMIM:133540
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Orotica... OMIM:207800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Compulsive behaviors, Decreased amplitude of ... ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Urinary incontinence, Acanthocytosis, Optic atrophy, Phonic tics, Depression, Deme... OMIM:234200
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Orthostatic hypotension due to autonomic dysfunction, Short attention... ORPHA:642

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 Atad2b

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 Atad2b.

No publications found that use IMPC mice or data for Atad2b.

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
Atad2btm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Atad2btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atad2btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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