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Gene: Atp2b4 MGI:88111

Gene Summary

Name:

ATPase, Ca++ transporting, plasma membrane 4

Synonyms:

PMCA4

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

No results meet the p-value threshold

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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.

Human diseases associated with Atp2b4 (0 diseases)
Human diseases predicted to be associated with Atp2b4 (339 diseases)

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	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)	Atp2b4^{tm1a(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.

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MGI Allele	Allele Type	Produced
Atp2b4^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Atp2b4^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Atp2b4^em1(IMPC)Bay	Exon Deletion	Mice

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