Gene Summary

Name:
ATPase, Na+/K+ transporting, beta 1 polypeptide
Synonyms:
Atpb,  Atpb-1,  sodium/potassium ATPase beta subunit

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Atp1b1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal testis morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Atp1b1em1(IMPC)Mbp HET Early adult 3.87×10-06
enlarged testis Atp1b1em1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Atp1b1em1(IMPC)Mbp HOM   E15.5 0.00
eye hemorrhage Atp1b1em1(IMPC)Mbp HET Early adult 1.48×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Atp1b1 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.

The table below shows human diseases associated to Atp1b1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertension, Essential
Elevated diastolic blood pressure, Elevated mean arterial pressure, Elevated systolic blood pressure OMIM:145500

The table below shows human diseases predicted to be associated to Atp1b1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Familial Male-Limited Precocious Puberty
Oligospermia, Precocious puberty, Macroorchidism, Long penis ORPHA:3000
Partington Syndrome
Facial telangiectasia, Macroorchidism ORPHA:94083
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment ORPHA:90050
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Vitreous hemorrhage OMIM:612304
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Retinal detachment, Peripheral retinal... OMIM:193235
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure ORPHA:3077
Fragile X Syndrome
Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Retinal Capillary Malformation
Hyphema, Vitreous hemorrhage ORPHA:71213
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Oligospermia, Macroorchidism, Increased circ... ORPHA:8
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Fragile X Syndrome
Macroorchidism ORPHA:908
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Congestive heart failure, Macroorchidism, Mitral regurgitation, Tricuspid regurgi... ORPHA:324410
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Polyembryoma
Macroorchidism, Isosexual precocious puberty, Abnormal onset of bleeding ORPHA:180229
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Non-Functioning Pituitary Adenoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, Female hypog... ORPHA:91349
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hemorrhage of the eye, Remnants of the hyaloid vascula... ORPHA:91495
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Panhypopituitarism, Anterior hypopituitarism, Ovarian cyst, Adrenocor... ORPHA:91348
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism OMIM:300055
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization OMIM:180080
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Tractional retinal detachment OMIM:601813
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Epididymitis, Hypertension, Hematemesis, Subdura... ORPHA:99827
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal detachment, Retinal neovascularization OMIM:133780
Macular Degeneration, Age-Related, 1
Macular degeneration, Geographic atrophy, Macular hemorrhage OMIM:603075
Eales Disease
Rhegmatogenous retinal detachment, Ischemic stroke, Vitreous hemorrhage, Transient ischemic attac... ORPHA:40923
46,Xy Sex Reversal 10
Micropenis, Gonadoblastoma, Sex reversal, Ambiguous genitalia, Dysgerminoma, Decreased testicular... OMIM:616425
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Macroorchidism, Hypospadias OMIM:618874
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Vitreoretinochoroidopathy
Pigmentary retinopathy, Vitreous hemorrhage, Retinal detachment, Retinal neovascularization OMIM:193220
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Bruising susceptibility, Ecchymosis, Pancreatic cysts, Epidural hemor... ORPHA:464329
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Retinal neovascularization, Vitreous hemorrhage, Abnormality o... ORPHA:891
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system OMIM:221900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormality of female external genitalia, Male pseudohermaphroditism, Macroorchidism, Endometrial... ORPHA:90790
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Retinal hemorrhage, Hyper... ORPHA:464321
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Mccune-Albright Syndrome
Goiter, Elevated circulating growth hormone concentration, Increased circulating prolactin concen... ORPHA:562
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Uveal Melanoma
Vitreous hemorrhage, Retinal detachment ORPHA:39044
Trisomy 20P
Cryptorchidism, Macroorchidism, Hypospadias ORPHA:261318
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Decreased thyroid-stimulating hormone level, Increased circulating prolactin concent... ORPHA:90674
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Petechiae, Ecchymosis, Shock, Hypotension, Capillary leak, Hypertensi... ORPHA:340
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Ecchymosis, Purpura, Hypotension, Myocarditis, Excessive bleeding aft... ORPHA:319213
Retinoblastoma
Retinal calcification, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentat... ORPHA:790
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Bruising susceptibility, Petechiae, Hypovolemia, Orchitis, Shock, Hyp... ORPHA:99826
Aromatase Deficiency
Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Macroorchidism, postpub... ORPHA:91
Testicular Agenesis
Absent testis, Micropenis, Increased circulating gonadotropin level, Absent external genitalia, A... ORPHA:325124
Central Retinal Vein Occlusion
Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmentary retinopathy, Macular... ORPHA:411527
Pseudoxanthoma Elasticum
Optic disc drusen, Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Res... OMIM:264800
Familial Drusen
Abnormality of retinal pigmentation, Macular atrophy, Exudative retinal detachment, Reticular pig... ORPHA:75376
49,Xxxyy Syndrome
Abnormality of the testis size, Micropenis, External genital hypoplasia, Male hypogonadism, Ambig... ORPHA:261534
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Idiopathic Aplastic Anemia
Epistaxis, Gingival bleeding, Ecchymosis, Retinal hemorrhage ORPHA:88
Leptospirosis
Subconjunctival hemorrhage, Arrhythmia, Retinal hemorrhage, First degree atrioventricular block, ... ORPHA:509
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia OMIM:611773
Proteus Syndrome
Chorioretinal coloboma, Abnormality of retinal pigmentation, Testicular neoplasm, Pulmonary embol... ORPHA:744
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Retinoblastoma
Retinal calcification, Vitreous hemorrhage, Pinealoma OMIM:180200
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Retinal hemorrhage, Macular degeneration, Cerebral hemorrhage, Angin... OMIM:177850
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis, Tractional retinal detachment ORPHA:209959
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Telangiectasia, Punctate vasculit... OMIM:192315
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Pseudoxanthoma Elasticum
Bruising susceptibility, Gastrointestinal hemorrhage, Retinal hemorrhage, Sudden cardiac death, T... ORPHA:758
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Chordee, Septate vagina, Retinal coloboma, Cryptorchidism, Micropenis, Optic atrophy, Iris colobo... ORPHA:261552
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Gingival bleeding, Vas... ORPHA:33226
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Aspartylglucosaminuria
Mitral regurgitation, Macroorchidism OMIM:208400
Incontinentia Pigmenti
Retinal hemorrhage, Supernumerary nipple, Retinal detachment, Hypoplastic nipples, Breast aplasia... OMIM:308300
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Incontinentia Pigmenti
Retinal hemorrhage, Congestive heart failure, Supernumerary nipple, Retinal detachment, Telangiec... ORPHA:464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Pierson Syndrome
Retinal hemorrhage, Retinal detachment, Remnants of the hyaloid vascular system, Posterior lentic... OMIM:609049
Granulomatosis With Polyangiitis
Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Retinal hemorrhage OMIM:608710
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Rift Valley Fever
Retinal hemorrhage, Gingival bleeding, Hematemesis, Melena, Abnormal bleeding ORPHA:319251
Cockayne Syndrome
Retinal degeneration, Retinal hemorrhage, Cryptorchidism, Abnormality of retinal pigmentation, Re... ORPHA:191
Cockayne Syndrome Type 3
Retinal degeneration, Retinal hemorrhage, Retinal atrophy, Optic disc pallor, Increased blood pre... ORPHA:90324
Microphthalmia, Syndromic 2
Septate vagina, Cryptorchidism, Iris coloboma, Retinal detachment, Remnants of the hyaloid vascul... OMIM:300166
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Vitreous hemorrhage, Papilledema ORPHA:91500
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Trichinellosis
Retinal hemorrhage ORPHA:863
Norrie Disease
Cryptorchidism, Retinal detachment, Remnants of the hyaloid vascular system, Uterine rupture, Opt... ORPHA:649
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Hypertension, Essential
Elevated diastolic blood pressure, Elevated mean arterial pressure, Elevated systolic blood pressure OMIM:145500
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Retinal hemorrhage, Pulmonary arterial hypertension, Pancr... ORPHA:51608
Neuroocular Syndrome
Iris coloboma, Remnants of the hyaloid vascular system, Lens coloboma OMIM:619539

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 Atp1b1

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 Atp1b1.

No publications found that use IMPC mice or data for Atp1b1.

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MGI Allele Allele Type Produced
Atp1b1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Atp1b1em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Atp1b1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp1b1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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