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Gene: Atp2b4 MGI:88111

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Gene Summary

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

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Atp2b4em1(IMPC)Bay HOM Early adult 0.00
decreased exploration in new environment Atp2b4em1(IMPC)Bay HOM Early adult 2.88×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

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 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Spermatogenic Failure 63
Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... ORPHA:529970
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
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 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
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 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 25
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia OMIM:618110
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology, Infertility OMIM:136580
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... OMIM:618433
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619949
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
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
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Cognitive impairment, Male infertility ORPHA:276183
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility OMIM:617996
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:616950
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spermatogenic Failure 2
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia OMIM:108420
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Spermatogenic Failure 77
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia OMIM:620103
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Male infertility, Obstructive azoospermia ORPHA:48
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Spermatogenic Failure 14
Male infertility, Azoospermia, Late spermatogenesis maturation arrest OMIM:615842
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Beta-Thalassemia
Anemia, Hypogonadotropic hypogonadism, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Micro... ORPHA:848
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Splenomegaly OMIM:602271
Ciliary Dyskinesia, Primary, 14
Polysplenia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology ORPHA:320391
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm OMIM:612650
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility OMIM:612649
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia OMIM:618849
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Reduced progressive sperm motility OMIM:619608
Ring Chromosome Y Syndrome
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... ORPHA:261529
Lead Poisoning
Anemia, Abnormal T cell morphology, Decreased female libido, Infertility, Abnormality of the mens... ORPHA:330015
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Beta-Thalassemia Intermedia
Hypogonadism, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence o... ORPHA:231222
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... ORPHA:79239
Foxg1 Syndrome
Abnormal repetitive mannerisms, Bruxism, Stereotypical hand wringing ORPHA:561854
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:352490
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Polysplenia, Female infertility, Male infertility ORPHA:244
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms ORPHA:280763
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
48,Xxyy Syndrome
Infertility, Azoospermia, Hypergonadotropic hypogonadism, Abnormal repetitive mannerisms ORPHA:10
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Behavioral Variant Of Frontotemporal Dementia
Collectionism, Abnormal repetitive mannerisms ORPHA:275864
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Pancytopenia, Male infertility, Hypergonadotropic hypogonadism, Thromb... OMIM:227650
Hydroxykynureninuria
Hypotension, Tachycardia, Abnormal repetitive mannerisms ORPHA:79155
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hypogonadism, Hypertension, Congestive heart failure, Hepatosplen... ORPHA:85450
Christianson Syndrome
Abnormal repetitive mannerisms ORPHA:85278
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:411986
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Dominant Beta-Thalassemia
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... ORPHA:231226
Beta-Thalassemia Major
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... ORPHA:231214
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Myocardial infarction, Abnormal repetitive mannerisms ORPHA:457240
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Abnormal repetitive mannerisms ORPHA:391307
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Hepatosplenomegaly ORPHA:397612
Developmental And Speech Delay Due To Sox5 Deficiency
Mitral regurgitation, Abnormal repetitive mannerisms ORPHA:313892
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal repetitive mannerisms ORPHA:79264
Inverted Duplicated Chromosome 15 Syndrome
Abnormal repetitive mannerisms, Hypogonadism ORPHA:3306
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
22Q11.2 Duplication Syndrome
Aplasia/Hypoplasia of the thymus, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms ORPHA:208447
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Abnormal repetitive mannerisms, Cerebral ischemia ORPHA:927
Alazami Syndrome
Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:319671
4Q21 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:238750
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
47,Xyy Syndrome
Oligospermia, Male infertility, Azoospermia ORPHA:8
2Q23.1 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228402
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Ciliary Dyskinesia, Primary, 1
Asplenia, Male infertility OMIM:244400
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lamb-Shaffer Syndrome
Abnormal repetitive mannerisms ORPHA:530983
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... ORPHA:124
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms ORPHA:572013
Partial Androgen Insensitivity Syndrome
Male infertility, Azoospermia, Male sexual dysfunction, Primary amenorrhea ORPHA:90797
Transketolase Deficiency
Compulsive behaviors, Abnormal repetitive mannerisms, Secondary amenorrhea ORPHA:488618
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Recurrent hand flapping, Hypertension, Abnormal repetitive mannerisms ORPHA:449291
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Cystinosis
Portal hypertension, Abnormal repetitive mannerisms ORPHA:213
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal repetitive mannerisms, Obsessive-compulsive trait ORPHA:168491
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Smith-Magenis Syndrome
Abnormal repetitive mannerisms ORPHA:819
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Abnormal repetitive mannerisms ORPHA:435638
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased fertility, Irregular menstruation, Male hypogonadism, Male infertility, Primary amenorrhea ORPHA:90793
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Aromatase Deficiency
Female infertility, Male infertility, Hypergonadotropic hypogonadism, Primary amenorrhea ORPHA:91
2Q37 Microdeletion Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:301040
Rett Syndrome
Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:778
Bloom Syndrome
Acute myeloid leukemia, Premature ovarian insufficiency, Abnormal proportion of CD8-positive T ce... ORPHA:125
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms ORPHA:98784
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:476126
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms ORPHA:2479
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal repetitive mannerisms ORPHA:300570
Kleefstra Syndrome
Abnormal repetitive mannerisms, Arrhythmia ORPHA:261494
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal repetitive mannerisms ORPHA:457279
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:261197
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Head-banging, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:177907
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Abnormal repetitive mannerisms ORPHA:457351
White-Sutton Syndrome
Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:468678
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms ORPHA:496641
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Collectionism, Abnormal repetitive mannerisms ORPHA:96121
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Azoospermia, Male infertility, Hypergonadotropic hypogonadism, Pr... ORPHA:251510
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Repetitive compulsive behavior, Abnormal repetitive mannerisms ORPHA:522077
Mucopolysaccharidosis Type 2
Enlarged tonsils, Hypertension, Abnormal repetitive mannerisms, Arrhythmia, Splenomegaly, Cardiom... ORPHA:580
Renal Cysts And Diabetes Syndrome
Reduced sperm motility OMIM:137920
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:508533
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Abnormal repetitive mannerisms ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Abnormal repetitive mannerisms ORPHA:464306
1P36 Deletion Syndrome
Telangiectasia, Hypogonadism, Dilated cardiomyopathy, Abnormal repetitive mannerisms, Abnormality... ORPHA:1606
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Abnormal repetitive mannerisms ORPHA:508498
Carney Complex
Oligospermia, Decreased fertility in males, Abnormal sperm motility ORPHA:1359
Wiedemann-Steiner Syndrome
Abnormal repetitive mannerisms ORPHA:319182
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Abnormal repetitive mannerisms ORPHA:447997
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal repetitive mannerisms ORPHA:468631
Cystic Fibrosis
Male infertility, Hepatosplenomegaly OMIM:219700
Oculocerebrorenal Syndrome Of Lowe
Azoospermia, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:534
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypical body rocking, Repetitive compulsive behavior, Abnormal repetitive mannerisms ORPHA:513456
Nmda Receptor Encephalitis
Orthostatic hypotension, Neoplasm of the thymus, Abnormal repetitive mannerisms ORPHA:217253
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal repetitive mannerisms, Compulsive behaviors, Cardiac conduction abnormality, Aortic valv... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal repetitive mannerisms, Compulsive behaviors, Cardiac conduction abnormality, Aortic valv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal repetitive mannerisms, Compulsive behaviors, Cardiac conduction abnormality, Aortic valv... ORPHA:353277
Mowat-Wilson Syndrome
Asplenia, Abnormal repetitive mannerisms, Oligomenorrhea, Aortic valve stenosis, Pulmonic stenosi... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Abnormal repetitive mannerisms, Aortic valve stenosis, Pulmonic stenosis, Bruxism, Chordee ORPHA:261537
Norrie Disease
Abnormal repetitive mannerisms, Erectile dysfunction ORPHA:649
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Hyphema, Abnormal repetitive mannerisms, Aortic valve stenosis, Pulmonic stenosis, Brux... 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

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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

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