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Gene: Ensa MGI:1891189

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Gene Summary

Name:
endosulfine alpha
Synonyms:
2610007F17Rik,  1700020C18Rik

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
decreased circulating calcium level Ensaem1(IMPC)J HOM Early adult 7.11×10-07
abnormal cholesterol homeostasis Ensaem1(IMPC)J HOM   Early adult 2.48×10-05
abnormal auditory brainstem response Ensaem1(IMPC)J HOM   Early adult 4.13×10-06
increased lean body mass Ensaem1(IMPC)J HOM Early adult 8.85×10-05
hyperactivity Ensaem1(IMPC)J HOM Early adult 2.26×10-18

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Select physiological systems to view:
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.

Electroretinography 3

Fundus file

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

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X-ray

XRay Images Forepaw

1 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Skull Lateral Orientation

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

1 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Ensa 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 Ensa by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Schizophrenia 15
Hyperactivity OMIM:613950
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Continuous spike and waves during slow sleep, Hyperacti... OMIM:301008
Ravine Syndrome
Decreased body weight, Abnormal auditory evoked potentials, Failure to thrive, Anorexia ORPHA:99852
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive... ORPHA:100973
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hypsarrhythmia, Hyperactivity, Agitation OMIM:619970
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Failure to thrive, Hypocalcemia ORPHA:163693
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, EEG abnormality, Hyperactivity, Motor stereotypy OMIM:239500
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Polyphagia, Facial palsy, Posteriorly rotated ears, Macrotia OMIM:606407
Ring Chromosome 10 Syndrome
Low-set ears, Large earlobe, Abnormal antihelix morphology, Hypocalcemia, Aganglionic megacolon, ... ORPHA:1438
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hypsarrhythmia, Hyperactivity, Impulsivity OMIM:617113
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Adamantinoma
Hypercalcemia ORPHA:55881
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Oculoskeletodental Syndrome
Conductive hearing impairment, Hearing impairment, Hypocalcemia, Sensorineural hearing impairment... ORPHA:557003
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anorexia OMIM:175500
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Failure to thrive, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Mo... OMIM:609425
Glycine Encephalopathy 1
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Recurrent otitis media, Hyperactivity, Inflexible adherence to routines OMIM:301076
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Albers-Schönberg Osteopetrosis
Optic atrophy, Facial palsy, Hearing impairment, Hypocalcemia ORPHA:53
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Obesity, Hyperphosphatemia, Hypocalcemia OMIM:612462
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia ORPHA:398063
X-Linked Agammaglobulinemia
Failure to thrive, Hypocalcemia, Sensorineural hearing impairment, Weight loss, Chronic otitis media ORPHA:47
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... ORPHA:52368
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with generalized epileptiform discharges, Continuous spike and... ORPHA:98818
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Failure to thrive, Hearing impairment, Hypocalcemia, Facial palsy OMIM:259700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Failure to thrive, Hypocalcemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Posteriorly rotated ears OMIM:241410
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, EEG with generalized epileptiform discharges, Inappropriate behavior, Ag... OMIM:619827
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Hearing impairment, Hypocalcemia OMIM:618440
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Low-set ears, Bruxism, Motor stereotypy, Hyperactivity, EEG abnormality,... OMIM:618718
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Failure to thrive, Hypocalcemia OMIM:264700
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Sensorineural hearing impairment ORPHA:2668
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ... ORPHA:26793
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... ORPHA:94093
Generalized Pustular Psoriasis
Hypoalbuminemia, Obesity, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein con... ORPHA:247353
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:301013
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Hypocalcemia, Sensorineural hearing impairment, Abn... OMIM:607143
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Blue Diaper Syndrome
Increased body weight, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Inappropriate laughter, Hypocalcemia OMIM:618476
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Timothy Syndrome
Hypocalcemia OMIM:601005
Hypercalcemia, Infantile, 1
Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Papilledema, Transient hypophosphatemia, Small for gestational age OMIM:127000
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Failure to thrive, Elevated circulating creatinine concentration, Hypoc... ORPHA:411634
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia OMIM:602361
Non-Functioning Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Weight loss, Hypercalcemia, Pulsatile t... ORPHA:94080
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne... ORPHA:206443
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Polyphagia, Calcinosis, Hypocalcem... ORPHA:79444
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hyperphosphatemia, Abnormal pinna morphology, Hypocalcemia ORPHA:2323
Double Outlet Right Ventricle
Failure to thrive, Abnormality of cartilage of external ear, Hypocalcemia ORPHA:3426
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Celiac Disease, Susceptibility To, 1
Steatorrhea, Weight loss, Failure to thrive, Hypocalcemia OMIM:212750
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Failure to thrive, Hypocalcemia ORPHA:289157
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Focal EEG discharges with secondary generalization, Obesity, Aggr... ORPHA:3077
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Sensorineural hearing impairment, ... ORPHA:79443
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Hypoproteinemia, Hypocalcemia OMIM:235255
Osteopetrosis, Autosomal Recessive 5
Undetectable visual evoked potentials, Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Optic dis... OMIM:259720
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Decreased circulatin... ORPHA:37042
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Hypercalcemia OMIM:614732
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, EEG with generalized epileptiform discharges, Obesity, Self-mutilation,... ORPHA:163681
Ethylene Glycol Poisoning
Addictive alcohol use, Facial palsy, Hyperkalemia, Hypocalcemia ORPHA:31826
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hypsarrhythmia, Hyperactivity, Failure to thrive OMIM:619239
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hypoproteinemia, Hypocalcemia ORPHA:1655
Cartilage-Hair Hypoplasia
Failure to thrive, Low-set, posteriorly rotated ears, Hypocalcemia, Aganglionic megacolon, EEG ab... ORPHA:175
Pearson Syndrome
Hearing impairment, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia,... ORPHA:699
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Self-mutilation, Aggressive behavior, Attention deficit hyperac... ORPHA:476126
Gitelman Syndrome
Hypermagnesemia, Polydipsia, Failure to thrive, Hypomagnesemia, Hypocalcemia, Tinnitus, Salt crav... ORPHA:358
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Failure to thrive, Anorexia OMIM:241500
Acute Adrenal Insufficiency
Failure to thrive, Hyperuricemia, Hyponatremia, Salt craving, Decreased circulating cortisol leve... ORPHA:95409
Late-Onset Isolated Acth Deficiency
Failure to thrive, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Weight loss... ORPHA:199299
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Obesity, Hyperphosphatemia OMIM:103580
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Hyperparathyroidism, Neonatal Severe
Polydipsia, Failure to thrive, Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, F... OMIM:248250
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 Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hypocalcemia, Hair-pulling, Protruding ear, Polyphagi... OMIM:620330
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Velocardiofacial Syndrome
Aggressive behavior, Hypocalcemia OMIM:192430
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia, Polydipsia OMIM:617994
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive OMIM:616881
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Optic nerve compression, Otitis media, Hypocalcemia, Hypophosphatemia, Abnorm... ORPHA:667
22Q11.2 Deletion Syndrome
Low-set ears, Optic atrophy, Small earlobe, Conductive hearing impairment, Failure to thrive, Hea... ORPHA:567
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Progressive sensorineural hearing impairment, Hypocalcemia ORPHA:2237
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Abnormal eat... ORPHA:247585
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Weight loss, Hypercalcemia, Pulsatile t... ORPHA:276621
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Small for gestational age, Failure to thrive, Hearing impair... OMIM:193700
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality, Hyperactivity, Mo... OMIM:610042
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Hea... ORPHA:206436
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Conductive hearing impairment, Failure to thrive, Cranial nerve compression, Hypoc... ORPHA:2785
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Hypocalcemia, Microtia OMIM:300712
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Posteriorly rotated ears, Hypocalcemia, Microtia ORPHA:163979
Addison Disease
Failure to thrive, Hyperuricemia, Hyponatremia, Salt craving, Decreased circulating cortisol leve... ORPHA:85138
Spinal Cord Injury
Hypercalcemia, Abnormal autonomic nervous system physiology ORPHA:90058
Hennekam Syndrome
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Hypocalcemia ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Slender build, Hypocalcemia, Unconjugated hyperbilirubinemia,... OMIM:613658
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cholestenol, ... ORPHA:401973
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hearing impairment OMIM:156400
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Restless legs, Sensorineural hearing impairment, Absent brai... ORPHA:101085
Monosomy 13Q34
Obesity, Hypercalcemia, Posteriorly rotated ears, Abnormal earlobe morphology ORPHA:96168
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Bilateral conductive hearing impairment OMIM:602080
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Failure to thrive, Macrotia, Recurrent otitis media, Bruxism, Stereotypical body ro... OMIM:619503
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Hearing impairment, EEG with generalized sharp slow waves, Obesity, EEG with spike-... ORPHA:369837
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Cockayne Syndrome Type 1
Optic atrophy, Failure to thrive, Hearing impairment, Abnormality of peripheral nerve conduction,... ORPHA:90321
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Cranioectodermal Dysplasia 1
Low-set ears, Protruding ear, Hypocalcemia OMIM:218330
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Weight loss, Hypercalcemia, Pulsatile t... ORPHA:29072
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Liver Disease, Severe Congenital
Failure to thrive, Increased circulating ferritin concentration, Recurrent otitis media, Hyperbil... OMIM:619991
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Posteriorly rotate... ORPHA:171929
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Failure to thrive, Hypomagnesemia, Hyperaldos... OMIM:601678
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Failure to thrive, Hearing impairment OMIM:277440
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Chronic otitis media, Failure to thrive ORPHA:83471
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Papilledema, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Hypophosphatemia, Hypercalcemia, Hearing impairment ORPHA:249
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Obesity, Hypocalcemia, Attention deficit hyperactivity diso... OMIM:188400
Vipoma
Increased circulating cortisol level, Hypokalemia, Weight loss, Anorexia, Hypercalcemia ORPHA:97282
Somatostatinoma
Increased circulating cortisol level, Weight loss, Anorexia, Steatorrhea, Hypercalcemia ORPHA:97283
Ppoma
Weight loss, Hypercalcemia, Increased circulating cortisol level, Anorexia ORPHA:97278
Charge Syndrome
Low-set ears, Cupped ear, Aplasia of the semicircular canal, Hypocalcemia, Self-mutilation, Senso... OMIM:214800
Cockayne Syndrome B
Optic atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to thrive,... OMIM:133540
Parathyroid Carcinoma
Polydipsia, Hypercalcemia, Hypophosphatemia, Weight loss, Dysphagia ORPHA:143
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Weight loss, Hypercalcemia ORPHA:29073
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Decreased nerve conduction... OMIM:216400
Glucagonoma
Increased circulating cortisol level, Weight loss, Anorexia, Steatorrhea, Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Grfoma
Weight loss, Hypercalcemia, Increased circulating cortisol level, Anorexia ORPHA:97261
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia ORPHA:99880
Pheochromocytoma
Hypercalcemia OMIM:171300
Zollinger-Ellison Syndrome
Weight loss, Hypercalcemia, Increased circulating cortisol level ORPHA:913
Johanson-Blizzard Syndrome
Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentration, Sensorineural hearing ... OMIM:243800
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Cranial nerve compression, Primary hypercortisolism, Weight... ORPHA:652
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Ganglioneuromatosis, Hypercalcemia ORPHA:653
Williams Syndrome
Abnormal circulating lipid concentration, Failure to thrive in infancy, Low-set, posteriorly rota... ORPHA:904
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Optic nerve compression, Hypocalcemic seizures OMIM:612301
Williams-Beuren Syndrome
Failure to thrive in infancy, Recurrent otitis media, Obesity, Large earlobe, Obsessive-compulsiv... OMIM:194050
Sotos Syndrome
Conductive hearing impairment, Hearing impairment, Cholesteatoma, Aganglionic megacolon, Aggressi... ORPHA:821
Sarcoidosis
Weight loss, Hypercalcemia, Facial palsy ORPHA:797

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 Ensa

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 Ensa.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ENSA and ARPP19 differentially control cell cycle progression and development. The Journal of cell biology (January 2019) Ensatm1a(EUCOMM)Hmgu PMC6363464

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ensatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ensatm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ensatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ensatm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ensaem1(IMPC)J Whole-gene deletion Mice

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