Gene Summary

Name:
ATPase, Ca++ transporting, plasma membrane 4
Synonyms:
PMCA4

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.

Select physiological systems to view:
Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Atp2b4 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 Atp2b4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Nondisjunction
Decreased fertility OMIM:158250
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Spontaneous abortion,... ORPHA:2133
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility OMIM:602271
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Stereotypy OMIM:617830
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Stereotypy OMIM:618709
Beta-Thalassemia
Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thro... ORPHA:848
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Stereotypy OMIM:617393
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements OMIM:618218
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ataxia OMIM:619150
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Ciliary Dyskinesia, Primary, 14
Polysplenia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Ciliary Dyskinesia, Primary, 12
Immotile sperm OMIM:612650
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping ORPHA:100973
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Abnormal sperm head morphology, Reduced sperm motility ORPHA:320391
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Hyperprolinemia, Type I
Ataxia, Stereotypy OMIM:239500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Spastic tetraparesis, Stereotypy OMIM:619470
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 19
Infertility, Reduced sperm motility OMIM:614935
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility OMIM:612649
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Stereotypy OMIM:612069
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Gait ataxia OMIM:618917
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility, Polysplenia OMIM:619608
Classic Galactosemia
Clumsiness, Postural tremor, Secondary amenorrhea, Oligomenorrhea, Speech apraxia, Ataxia, Incoor... ORPHA:79239
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Intellectual Developmental Disorder, Autosomal Recessive 39
Stereotypy OMIM:615541
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Myoclonus, Rigidity, Stereotypy OMIM:600795
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Stereotypy OMIM:609425
Mental Retardation With Language Impairment And With Or Without Autistic Features
Speech apraxia, Stereotypy OMIM:613670
Foxg1 Syndrome
Choreoathetosis, Myoclonus, Stereotypy, Stereotypical hand wringing, Hyperkinetic movements, Spas... ORPHA:561854
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Spastic dysarthria, Stereotypy, Spasticity, Progressive spastic paraplegia ORPHA:280763
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Hyperkinetic movements OMIM:619317
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Imbalanced hemoglobin synthesis, Infertility, Abnormal T... ORPHA:330015
Ring Chromosome Y Syndrome
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... ORPHA:261529
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Autosomal Recessive Non-Syndromic Intellectual Disability
Chorea, Spasticity, Stereotypy ORPHA:88616
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hypertonia, Spasticity ORPHA:352490
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Stereotypy, Ataxia, Spasticity, Limb ataxia OMIM:617695
Behavioral Variant Of Frontotemporal Dementia
Upper motor neuron dysfunction, Abnormality of extrapyramidal motor function, Fasciculations, Ste... ORPHA:275864
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Splenomegaly, Hypogonadism, Persistence of hemoglobin F, Hep... ORPHA:231222
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Spasticity, Stereotypy OMIM:618718
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Pick Disease Of Brain
Stereotypy OMIM:172700
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Upper limb spasticity, Stereotypy, Tremor, Myocardial infarction, Hyperkinetic movements ORPHA:457240
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Poor motor coordination, Tachycardia, Stereotypy, Poor fine motor c... ORPHA:79264
48,Xxyy Syndrome
Infertility, Azoospermia, Stereotypy, Tremor, Ataxia, Hypergonadotropic hypogonadism ORPHA:10
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Stereotypy OMIM:618906
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Snijders Blok-Campeau Syndrome
Speech apraxia, Stereotypy OMIM:618205
Hydroxykynureninuria
Hypertonia, Hypotension, Tachycardia, Stereotypy ORPHA:79155
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity ORPHA:208447
Christianson Syndrome
Gait ataxia, Truncal ataxia, Stereotypy ORPHA:85278
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Xq28 (MECP2) duplication
Progressive spasticity, Gait ataxia, Stereotypy DECIPHER:45
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Male infertility, Reticulocytopenia, Hypergonadotropic hypogonadis... OMIM:227650
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Mental Retardation, Autosomal Dominant 7
Stereotypical hand wringing, Ataxia, Incoordination, Stereotypy OMIM:614104
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Babinski sign, Scissor gait, Dysmetria, Spastic gait, Spastic tetrap... OMIM:619121
Short Stature, Developmental Delay, And Congenital Heart Defects
Stereotypy OMIM:617044
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Chorea, Spasticity, Stereotypy ORPHA:178469
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Myoclonus, Stereotypy ORPHA:411986
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypertension, Lymphadenopathy, Abnormality of the lymph nodes, Hypogonadism, Gastro... ORPHA:85450
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy, Ataxia, Recurrent h... OMIM:619580
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Ataxia, Cerebral ischemia, Stereotypy ORPHA:927
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
4Q21 Microdeletion Syndrome
Tremor, Stereotypy ORPHA:238750
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Shukla-Vernon Syndrome
Stereotypy OMIM:301029
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Coffin-Siris Syndrome 6
Tics, Stereotypy OMIM:617808
Macrocephaly-Developmental Delay Syndrome
Hepatosplenomegaly, Stereotypy ORPHA:397612
Lamb-Shaffer Syndrome
Ataxia, Upper motor neuron dysfunction, Stereotypy ORPHA:530983
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Spasticity, Stereotypy OMIM:617807
Inverted Duplicated Chromosome 15 Syndrome
Hypogonadism, Stereotypy ORPHA:3306
5Q14.3 Microdeletion Syndrome
Stereotypy ORPHA:228384
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Stereotypy, Repetitive compulsiv... OMIM:300260
Developmental And Speech Delay Due To Sox5 Deficiency
Mitral regurgitation, Stereotypy ORPHA:313892
Mental Retardation, Autosomal Dominant 48
Stereotypy OMIM:617751
Childhood Disintegrative Disorder
Stereotypy ORPHA:168782
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Stereotypy ORPHA:391307
47,Xyy Syndrome
Oligospermia, Male infertility, Azoospermia ORPHA:8
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Stereotypy ORPHA:529965
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Hypertonia, Pulmonic stenosis, Stereotypy OMIM:618914
Intellectual Developmental Disorder, Autosomal Recessive 71
Stereotypy OMIM:618504
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
Pitt-Hopkins-Like Syndrome 1
Ataxia, Spasticity, Stereotypy OMIM:610042
2Q23.1 Microdeletion Syndrome
Ataxia, Stereotypy ORPHA:228402
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonus, Cortical myoclonus, Stereotypy, Ataxia, Spasticity ORPHA:168491
Niemann-Pick Disease, Type C2
Cataplexy, Stereotypy, Splenomegaly, Ataxia, Spasticity OMIM:607625
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Recurrent hand flapping, Hypertonia, Stereotypy OMIM:300986
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Ataxia, Stereotypy OMIM:619428
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Stereotypy OMIM:618825
Smith-Magenis Syndrome
Stereotypy OMIM:182290
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
22Q11.2 Duplication Syndrome
Aplasia/Hypoplasia of the thymus, Stereotypy ORPHA:1727
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Rett Syndrome
Limb apraxia, Stereotypical hand wringing, Bradykinesia, Stereotypy ORPHA:778
Rett Syndrome, Congenital Variant
Athetosis, Chorea, Tongue thrusting, Stereotypy, Apraxia, Spasticity OMIM:613454
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Potocki-Lupski Syndrome
Stereotypy OMIM:610883
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Radio-Tartaglia Syndrome
Tremor, Ataxia, Stereotypy OMIM:619312
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Cystinosis
Abnormal pyramidal sign, Portal hypertension, Stereotypy ORPHA:213
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia ORPHA:90797
Blepharophimosis-Impaired Intellectual Development Syndrome
Stereotypy OMIM:619293
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Stereotypy, Stereotypical body rocking, Ataxia, Stereotypical hand wringin... OMIM:300912
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Intellectual Developmental Disorder, Autosomal Dominant 34
Stereotypy OMIM:616351
Chromosome 5P13 Duplication Syndrome
Stereotypy OMIM:613174
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Stereotypica... OMIM:619229
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Stereotypy ORPHA:500159
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Choreoathetosis, Chorea, Stereotypy, Repetitive compulsive behavior, Ataxia, Hyperkinetic movemen... ORPHA:522077
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Spasticity, Stereotypy OMIM:300486
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomotor apraxia, Spastic diplegi... ORPHA:300570
Cri-Du-Chat Syndrome
Hypertonia, Stereotypy OMIM:123450
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypertension, Recurrent hand flapping, Stereotypy ORPHA:449291
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spasticity ORPHA:496641
3P25.3 Microdeletion Syndrome
Ataxia, Pulmonic stenosis, Stereotypy ORPHA:435638
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Proximal 16P11.2 Microdeletion Syndrome
Paroxysmal dyskinesia, Choreoathetosis, Speech apraxia, Stereotypy ORPHA:261197
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Ataxia, Stereotypy OMIM:619435
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Stereotypy ORPHA:98784
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
Aromatase Deficiency
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism ORPHA:91
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Pulmonic stenosis, Stereotypy, Hypertonia, Spasticity OMIM:615802
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility ORPHA:90793
Ogden Syndrome
Premature ventricular contraction, Ventricular tachycardia, Torsade de pointes, Supraventricular ... OMIM:300855
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Cerebral Creatine Deficiency Syndrome 1
Poor hand-eye coordination, Spasticity, Stereotypy OMIM:300352
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Opisthotonus, Rigidity, Choreoathetosis, Orthostatic hypotension, Chorea, ... ORPHA:217253
Helsmoortel-Van Der Aa Syndrome
Stereotypy OMIM:615873
Transketolase Deficiency
Secondary amenorrhea, Stereotypy ORPHA:488618
Megalocornea-Intellectual Disability Syndrome
Ataxia, Stereotypy ORPHA:2479
Smith-Magenis Syndrome
Stereotypy ORPHA:819
Bloom Syndrome
Oligospermia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Azoosper... ORPHA:125
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Clonus, Myoclonic spasms, Lower limb spasticity, Stereotypy, Hypertonia ORPHA:447997
Phelan-Mcdermid Syndrome
Tongue thrusting, Stereotypy OMIM:606232
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Stereotypy ORPHA:476126
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Stereotypy OMIM:619103
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Spasticity, Stereotypy ORPHA:457351
Bainbridge-Ropers Syndrome
Recurrent hand flapping, Hypertonia, Stereotypy OMIM:615485
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Stereotypy ORPHA:457279
Developmental And Epileptic Encephalopathy 2
Myoclonus, Stereotypy OMIM:300672
2Q37 Microdeletion Syndrome
Stereotypy ORPHA:1001
Congenital Disorder Of Glycosylation, Type Iia
Hypertonia, Stereotypy OMIM:212066
Kleefstra Syndrome 1
Stereotypy OMIM:610253
Kleefstra Syndrome
Arrhythmia, Stereotypy ORPHA:261494
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Isometric tremor, Head titubation, Cerebral palsy, Torticollis, Aortic regurgitation, Spa... OMIM:619475
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... ORPHA:251510
White-Sutton Syndrome
Incoordination, Stereotypy ORPHA:468678
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypertonia, Opisthotonus, Stereotypy ORPHA:508533
Renal Cysts And Diabetes Syndrome
Reduced sperm motility OMIM:137920
7Q11.23 Microduplication Syndrome
Dysmetria, Aortic valve stenosis, Stereotypy ORPHA:96121
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Stereotypy, Hypertonia, Hyperkinetic movements, Spasticity, Abnormal pyramidal sign ORPHA:468631
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Gait ataxia OMIM:617330
Mucopolysaccharidosis Type 2
Hypertension, Cardiomyopathy, Splenomegaly, Stereotypy, Enlarged tonsils, Arrhythmia ORPHA:580
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased heart rate variability, Stereotypy OMIM:619005
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatosplenomegaly, Stereotypy OMIM:301066
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Stereotypy ORPHA:464311
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Stereotypy ORPHA:177907
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Stereotypy ORPHA:464306
Cystinosis, Nephropathic
Male hypogonadism, Male infertility, Splenomegaly OMIM:219800
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Stereotypy OMIM:619575
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Stereotypy OMIM:619297
1P36 Deletion Syndrome
Dilated cardiomyopathy, Telangiectasia, Abnormality of the spleen, Stereotypy, Hypogonadism, Hemi... ORPHA:1606
45,X/46,Xy Mixed Gonadal Dysgenesis
Chordee, Male infertility, Streak ovary, Azoospermia ORPHA:1772
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Heart murmur, Stereotypy OMIM:618653
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Stereotypical body rocking, Gait ataxia, Stereotypy ORPHA:513456
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Stereotypy ORPHA:508498
Cystic Fibrosis
Hepatosplenomegaly, Male infertility OMIM:219700
Carney Complex
Oligospermia, Abnormal sperm motility, Decreased fertility in males ORPHA:1359
Arboleda-Tham Syndrome
Lower limb hypertonia, Pulmonic stenosis, Stereotypy OMIM:616268
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Stereotypy OMIM:619512
Wiedemann-Steiner Syndrome
Stereotypy ORPHA:319182
Noonan Syndrome 1
Hypogonadism, Male infertility, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950
Oculocerebrorenal Syndrome Of Lowe
Azoospermia, Clonus, Stereotypy ORPHA:534
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Poor coordination, Spastic diplegia, Stereotypy OMIM:309590
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Stereotypy OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Stereotypy OMIM:301044
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis, Stereotypy ORPHA:353281
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Chordee, Exaggerated startle response, Stereotypy OMIM:619522
Norrie Disease
Clonus, Hypertonia, Erectile dysfunction, Stereotypy ORPHA:649
Coffin-Siris Syndrome 12
Heart murmur, Stereotypy OMIM:619325
Wolf-Hirschhorn Syndrome
Accessory spleen, Stereotypy OMIM:194190
Rubinstein-Taybi Syndrome 1
Poor coordination, Arrhythmia, Stereotypy OMIM:180849
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis, Stereotypy ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Cardiac conduction abnormality, Pulmonic stenosis, Stereotypy ORPHA:353284
Mowat-Wilson Syndrome
Oligomenorrhea, Asplenia, Chordee, Pulmonic stenosis, Stereotypy, Ataxia, Spasticity, Aortic valv... ORPHA:2152
Primrose Syndrome
Tics, Hypergonadotropic hypogonadism, Stereotypy OMIM:259050
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Chordee, Pulmonic stenosis, Stereotypy, Poor fine motor coordination, Spasticity, Aorti... ORPHA:261537
Lowe Oculocerebrorenal Syndrome
Stereotypy OMIM:309000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Chordee, Pulmonic stenosis, Stereotypy, Poor fine motor coordination, Spasticity, Aorti... ORPHA:261552

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 Atp2b4

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 Atp2b4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Atp2b4tm1a(EUCOMM)Wtsi PMC7263671

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Atp2b4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Atp2b4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp2b4em1(IMPC)Bay Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter