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Gene: Atp1b1 MGI:88108

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Gene Summary

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

Order Alleles

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
prenatal lethality prior to heart atrial septation Atp1b1em1(IMPC)Mbp HOM   E15.5 0.00
enlarged testis Atp1b1em1(IMPC)Mbp HET Early adult 0.00
abnormal vitelline vasculature morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Atp1b1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal somite shape Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal skin morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
abnormal pharyngeal arch morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
persistence of hyaloid vascular system Atp1b1em1(IMPC)Mbp HET Early adult 3.16×10-06
decreased locomotor activity Atp1b1em1(IMPC)Mbp HET Early adult 5.36×10-06
embryonic growth retardation Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
hyperactivity Atp1b1em1(IMPC)Mbp HET Early adult 1.81×10-32
abnormal retina morphology Atp1b1em1(IMPC)Mbp HET   Early adult 6.53×10-05
abnormal neural tube morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal testis morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
abnormal visceral yolk sac morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
eye hemorrhage Atp1b1em1(IMPC)Mbp HET Early adult 1.28×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E9.5

Images

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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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
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Retinopathy Of Prematurity
Abnormal macular morphology, Abnormal retinal vascular morphology, Tractional retinal detachment,... ORPHA:90050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Familial Peripheral Male-Limited Precocious Puberty
Attention deficit hyperactivity disorder, Long penis, Macroorchidism, Oligospermia, Precocious pu... ORPHA:3000
Partington Syndrome
Macroorchidism, Gait disturbance, Facial telangiectasia ORPHA:94083
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Retinal Capillary Malformation
Vitreous floaters, Subretinal exudate, Retinal exudate, Epiretinal membrane, Vitreous hemorrhage,... ORPHA:71213
Lambert Syndrome
Branchial anomaly, Intrauterine growth retardation, Ventricular septal defect ORPHA:1296
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Congestive heart failure, Macroorchidism, Broad-based gait ORPHA:3077
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... ORPHA:891
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Retinal exudate, Tractional retinal detachment, Falciform re... OMIM:601813
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Eales Disease
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Epiretinal membrane,... ORPHA:40923
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
47,Xyy Syndrome
Cryptorchidism, Micropenis, Hyperactivity, Attention deficit hyperactivity disorder, Varicocele, ... ORPHA:8
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Congenital macroorchidism OMIM:300624
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Restlessness, Bradykinesia, Spastic gait, Male hypogonadism, Macroorchidism, Choreoatheto... OMIM:300055
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Verheij Syndrome
Ventricular septal defect, Short neck, Intrauterine growth retardation, Short stature, Branchial ... OMIM:615583
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Elevated circulating growth hormone concentration, Hyperactivity, Macroorchidism ORPHA:85327
Megalencephaly
Long penis, Macroorchidism ORPHA:2477
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Morm Syndrome
Retinal dystrophy, Hyperactivity, Micropenis, Retinal atrophy ORPHA:75858
Fragile X Syndrome
Macroorchidism, Attention deficit hyperactivity disorder ORPHA:908
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral regurgitation, Inability to walk, Steppage gait, Tricuspid regurgitation, Aortic valve ste... ORPHA:324410
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Lujan-Fryns Syndrome
Macroorchidism, Attention deficit hyperactivity disorder ORPHA:776
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... OMIM:193220
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism, Attention deficit hyperactivity disorder ORPHA:284180
Persistent Hyperplastic Primary Vitreous
Tractional retinal detachment, Remnants of the hyaloid vascular system, Retinal fold, Glial remna... ORPHA:91495
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Hyperactivity, Coloboma OMIM:274270
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Testicular Regression Syndrome
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... ORPHA:983
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Short stature, Branchial anomaly, Webbed neck ORPHA:1131
Microphthalmia, Isolated 4
Absent testis, Coloboma OMIM:613094
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Polyembryoma
Isosexual precocious puberty, Abnormal onset of bleeding, Macroorchidism ORPHA:180229
Non-Functioning Pituitary Adenoma
Hypopituitarism, Abnormality of the pituitary gland, Hypogonadism, Hypotension, Decreased respons... ORPHA:91349
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Agitation, Bundle branch block, Bradycardia, Epistaxis, Pulmonary... ORPHA:99827
Hartnup Disorder
Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... ORPHA:231736
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased circulating prolactin concentration, Attention deficit hyperactivity disorder, ... ORPHA:90674
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Retinal nonattachment, Hyphema, Remnants of the hyaloid vascular system, Retinal fold OMIM:221900
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Abnormal pro... ORPHA:91348
Uveal Melanoma
Abnormal fundus morphology, Vitreous hemorrhage, Retinal detachment ORPHA:39044
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia, Testicular atr... ORPHA:52901
Glycine Encephalopathy 1
Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Gait disturbance ORPHA:88619
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Broad-based gait OMIM:619470
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:453499
Pseudoxanthoma Elasticum
Retinal peau d'orange, Macular degeneration, Choroidal neovascularization, Hypertension, Intermit... OMIM:264800
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Iris coloboma, Hypospadias OMIM:618874
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst, Short stature ORPHA:50815
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Hyperactivity OMIM:309520
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Bruising susceptibility, Ecchymosis, Subconjunctival hemorrhage, Pancreatic ... ORPHA:464329
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Gait ataxia, Dysmetria OMIM:618090
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Intracranial ... ORPHA:464321
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Atelis Syndrome 2
Pulmonic stenosis, Supravalvar pulmonary stenosis, Attention deficit hyperactivity disorder, Elev... OMIM:620185
Lujo Hemorrhagic Fever
Myocarditis, Hypotension, Ecchymosis, Dysphagia, Purpura, Subconjunctival hemorrhage, Excessive b... ORPHA:319213
Trisomy 20P
Macroorchidism, Cryptorchidism, Gait disturbance, Hypospadias ORPHA:261318
Hemorrhagic Fever-Renal Syndrome
Hypotension, Agitation, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak, Inte... ORPHA:340
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Retinal calcification, Abnormality of retinal pigmentat... ORPHA:790
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Female external genitalia in individual with 46,XY karyotype, Abnormality of... ORPHA:90790
Mccune-Albright Syndrome
Goiter, Elevated circulating growth hormone concentration, Increased circulating prolactin concen... ORPHA:562
Holoprosencephaly
Encephalocele, Spinal dysraphism, Abnormal pulmonary valve morphology, Cyclopia, Iris coloboma, V... ORPHA:2162
Juvenile Huntington Disease
Progressive cerebellar ataxia, Ataxia, Hyperactivity, Bradykinesia, Gait ataxia, Broad-based gait ORPHA:248111
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Lacunar stroke, R... OMIM:611773
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Orchitis, Hypotension, Bruising susceptibility, Internal hemorrhage, ... ORPHA:99826
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia OMIM:617182
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Tractional retinal detachment, Vitri... ORPHA:209959
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Leptospirosis
Optic neuritis, Hypotension, Papilledema, Arrhythmia, First degree atrioventricular block, Macula... ORPHA:509
46,Xy Sex Reversal 10
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... OMIM:616425
Oligomeganephronia
Optic disc coloboma, Secundum atrial septal defect, Branchial cyst ORPHA:2260
Bor Syndrome
Branchial cyst ORPHA:107
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... OMIM:165550
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Increased nuchal translucency, Cystic hygroma, Atrial septal defect, Ventricular septal defect, A... ORPHA:352665
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Branchial fistula, Intrauterine growth retardati... ORPHA:261330
Retinoblastoma
Pinealoma, Retinal calcification, Vitritis, Vitreous hemorrhage, Retinoblastoma OMIM:180200
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Raynaud phenomenon, Retinal hemorrhage, Retinal exudate, Telangiectasia, Gastrointestinal hemorrh... OMIM:192315
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Female pseudohermaphroditism, Macroorchidism, pos... ORPHA:91
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Agitation, Ataxia, Attention deficit hyperactivity disorder, Tip-toe gait, Ma... OMIM:619950
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology, Cryptorchidism, Shawl scrotum, Micropenis, Hyperactivity, Pineal ... OMIM:617516
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Macular degeneration, Angina pectoris, Gastrointestinal hemorrhage, Angioid ... OMIM:177850
Carney Complex
Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Leydig cell neop... ORPHA:1359
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Hydrocephalus, Tricuspid valve prolapse, Low posterior hairline, Branc... ORPHA:261337
Craniorachischisis
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Optic disc coloboma, Remnants... OMIM:120200
Graves Disease, Susceptibility To, 1
Polyphagia, Goiter, Hyperactivity, Decreased thyroid-stimulating hormone level, Congestive heart ... OMIM:275000
49,Xxxyy Syndrome
Decreased testicular size, Micropenis, Ambiguous genitalia, External genital hypoplasia, Abnormal... ORPHA:261534
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis in the skin, Vasculitis, Subconjunctival hemorrhage, Hematochezia OMIM:617718
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Proteus Syndrome
Pulmonary embolism, Abnormality of retinal pigmentation, Sudden cardiac death, Retinal nonattachm... ORPHA:744
Idiopathic Aplastic Anemia
Epistaxis, Gingival bleeding, Ecchymosis, Retinal hemorrhage ORPHA:88
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Limitation of neck motion, Lipomyelomeningocele, Occipital meningocel... ORPHA:268810
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Iris coloboma, Atrial septal defect, Intrauterine growth retardation, Short stature, Right ventri... OMIM:620186
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Iris coloboma, Patent ductus arteriosus ORPHA:861
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dysplastic aortic valve, Atrioventricular canal defect, Infancy onset ... ORPHA:508488
Pseudoxanthoma Elasticum
Bruising susceptibility, Hypertension, Sudden cardiac death, Angina pectoris, Restrictive cardiom... ORPHA:758
Waldenström Macroglobulinemia
Vasculitis, Gingival bleeding, Ataxia, Abnormal retinal vascular morphology, Purpura, Gastrointes... ORPHA:33226
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Incontinentia Pigmenti
Pulmonary arterial hypertension, Gait disturbance, Retinal vascular proliferation, Supernumerary ... ORPHA:464
Glutaryl-Coa Dehydrogenase Deficiency
Ataxia, Subdural hemorrhage, Athetosis, Dysphagia, Retinal hemorrhage ORPHA:25
Testicular Agenesis
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... ORPHA:325124
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysdiadochokinesis, Dysphagia, Bradykinesia, Gait ataxia, Optic atrophy, Dysmetria... OMIM:610217
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Inability to walk, Micropenis, Pulmonic stenosis, Iris coloboma, Septate vagina, ... ORPHA:261552
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Retinal detachment, Hypertension, Po... OMIM:609049
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Retinal hemorrhage ORPHA:86839
Rift Valley Fever
Retinal hemorrhage, Gingival bleeding, Retinitis, Melena, Hematemesis, Abnormal bleeding, Retinal... ORPHA:319251
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal vascular proliferation, Breast hypoplasia, Supernumerary nipple,... OMIM:308300
Trichinellosis
Central retinal artery occlusion, Dysphagia, Abnormal optic nerve morphology, Lethargy, Retinal h... ORPHA:863
Branchiooculofacial Syndrome
Iris coloboma, Short neck, Low posterior hairline, Intrauterine growth retardation, Branchial ano... OMIM:113620
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypop... OMIM:614643
Cockayne Syndrome
Retinal hemorrhage, Cryptorchidism, Gait disturbance, Inability to walk, Difficulty walking, Reti... ORPHA:191
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Abnormality... ORPHA:91500
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Hypopituitarism, Cryptorchidism, Optic nerve hypoplasia OMIM:603671
Cockayne Syndrome Type 3
Retinal hemorrhage, Unsteady gait, Difficulty walking, Retinal atrophy, Subdural hemorrhage, Card... ORPHA:90324
Full Nf2-Related Schwannomatosis
Unsteady gait, Epiretinal membrane, Dysphagia, Abnormal optic nerve morphology, Retinal hamartoma... ORPHA:637
Aspartylglucosaminuria
Macroorchidism, Mitral regurgitation OMIM:208400
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Hyperactivity, Ataxia, Pigmentary retinopathy, Retinal degeneration, Dysphagia,... OMIM:234200
Granulomatosis With Polyangiitis
Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Retinal hemorrhage OMIM:608710
Witteveen-Kolk Syndrome
Iris coloboma, Branchial fistula, Short stature, Intrauterine growth retardation, Growth delay OMIM:613406
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Tachycardia, Retinal hemorrhage OMIM:614653
Hyperthyroidism, Nonautoimmune
Goiter, Hyperactivity, Thyroid hyperplasia, Decreased thyroid-stimulating hormone level, Tachycardia OMIM:609152
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Craniofacial Microsomia
Tetralogy of Fallot, Ventricular septal defect, Hydrocephalus, Occipital encephalocele, Patent du... OMIM:164210
Norrie Disease
Cryptorchidism, Abnormal retinal vascular morphology, Retinal detachment, Attention deficit hyper... ORPHA:649
Familial Gestational Hyperthyroidism
Goiter, Hyperactivity, Thyroid hyperplasia, Agitation ORPHA:99819
Microphthalmia, Syndromic 2
Cryptorchidism, Iris coloboma, Pulmonic stenosis, Retinal detachment, Septate vagina, Aortic valv... OMIM:300166
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Semilobar Holoprosencephaly
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Hydrocephalus, Short stature, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93924
Schinzel-Giedion Syndrome
Short neck, Umbilical hernia, Abnormal heart morphology, Delayed eruption of teeth, Neural tube d... ORPHA:798
Holoprosencephaly 2
Cyclopia, Iris coloboma, Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hya... OMIM:157170
Neuroocular Syndrome
Lens coloboma, Hypoplasia of the fovea, Iris coloboma, Attention deficit hyperactivity disorder, ... OMIM:619539
Generalized Arterial Calcification Of Infancy
Retinal hemorrhage, Pulmonary arterial hypertension, Pancreatic calcification, Left ventricular s... ORPHA:51608
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Peripapillary atrophy, Hypopigmentation of the fundus, Cerebral hemorrhage, Ischemic stroke, Reti... OMIM:175780
Hypertension, Essential
Elevated diastolic blood pressure, Elevated mean arterial pressure, Elevated systolic blood pressure OMIM:145500

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
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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