banner
Genes Phenotypes Help, News, Blog

Gene: Chrna9 MGI:1202403

Log in to follow

Gene Summary

Name:
cholinergic receptor, nicotinic, alpha polypeptide 9
Synonyms:
2410015I05Rik,  Gm8311,  Acra9

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating alkaline phosphatase level Chrna9tm2a(EUCOMM)Wtsi HOM Early adult 6.88×10-05
increased total body fat amount Chrna9tm2a(EUCOMM)Wtsi HOM Early adult 5.53×10-05
increased leukocyte cell number Chrna9tm2a(EUCOMM)Wtsi HOM Early adult 2.61×10-05
increased startle reflex Chrna9tm2a(EUCOMM)Wtsi HOM   Early adult 5.41×10-07
increased lean body mass Chrna9tm2a(EUCOMM)Wtsi HOM Early adult 2.53×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Chrna9 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 Chrna9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Pancytopenia, ... OMIM:618963
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Failure to thrive, Exaggerated startle response OMIM:618201
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Apparent Mineralocorticoid Excess
Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level OMIM:218030
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lipodys... OMIM:617099
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Hyperekplexia 1
Umbilical hernia, Inguinal hernia, Exaggerated startle response OMIM:149400
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Optic nerve hypoplasia,... ORPHA:101085
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Joint contracture, Exaggerated startle response OMIM:617864
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Apparent Mineralocorticoid Excess
Hypokalemia, Failure to thrive, Decreased circulating renin level ORPHA:320
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Tremor, Exaggerated startle response OMIM:620327
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Athetosis, Decreased circulating renin level OMIM:615474
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Hip contracture, Exaggerated startle response, Flexion contracture, Ar... OMIM:617301
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... ORPHA:845
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Elevated circulating creatine kinase concentration, Exaggerated startle resp... OMIM:253800
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Dystonia, Failure to thrive, Exaggerated startle response ORPHA:521426
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycinemia, Thrombocytopenia, Exaggerated startle response, Dystonia, Hypernatremia OMIM:620423
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Asparagine Synthetase Deficiency
Hypoasparaginemia, Failure to thrive, Tremor, Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Hepatosplenomegaly, Exaggerated startle response ORPHA:79255
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Sandhoff Disease
Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Failure to thrive, Exaggerated startle response OMIM:617527
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Failure to thrive, Decreased circulating renin level ORPHA:90793
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level ORPHA:90795
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating renin level OMIM:202010
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Uterine prolapse, Exaggerated startle response, Anemia,... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Decreased circulating renin level, Hyponatremia, Camptodactyly, Hy... OMIM:201750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Chrna9

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 Chrna9.

No publications found that use IMPC mice or data for Chrna9.

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
Chrna9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Chrna9tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Chrna9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chrna9tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter