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Gene: Atp1a1 MGI:88105

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ATPase, Na+/K+ transporting, alpha 1 polypeptide
Synonyms:
Atpa-1

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IMPC Data Collections

  • No Body Weight Data
  • 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.

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 Atp1a1 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 Atp1a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Steppage gait OMIM:618036
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314

The table below shows human diseases predicted to be associated to Atp1a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Geniospasm 1
Anxiety OMIM:190100
Chorea, Benign Hereditary
Anxiety OMIM:118700
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, Inappropriate b... ORPHA:412066
Myoclonus-Dystonia Syndrome
Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Childhood Disintegrative Disorder
Dementia, Abnormal emotion/affect behavior, Social and occupational deterioration, Motor deterior... ORPHA:168782
Huntington Disease-Like 2
Dementia, Depression, Apathy, Irritability, Anxiety OMIM:606438
Basal Ganglia Calcification, Idiopathic, 5
Dementia, Depression, Apathy, Anxiety, Cognitive impairment OMIM:615483
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556037
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir... ORPHA:556030
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Dystonia 26, Myoclonic
Anxiety, Depression OMIM:616398
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Steppage gait OMIM:618036
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased circulating androgen concentration, Hyp... ORPHA:90796
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Increased circulating corticosterone level, Elevated ... ORPHA:95699
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Decreased circulati... ORPHA:320
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Akinesia, Difficulty walk... ORPHA:3385
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314

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 Atp1a1

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 Atp1a1.

No publications found that use IMPC mice or data for Atp1a1.

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MGI Allele Allele Type Produced
Atp1a1em1(IMPC)Ccpcz Exon Deletion Mice
Atp1a1tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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