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Gene: Ensa MGI:1891189

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Gene Summary

Name:
endosulfine alpha
Synonyms:
1700020C18Rik,  2610007F17Rik

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 5.61×10-07
decreased anxiety-related response Ensaem1(IMPC)J HOM Early adult 3.48×10-05
abnormal cholesterol homeostasis Ensaem1(IMPC)J HOM   Early adult 5.27×10-06
increased lean body mass Ensaem1(IMPC)J HOM Early adult 8.85×10-05
abnormal auditory brainstem response Ensaem1(IMPC)J HOM   Early adult 4.95×10-06
hyperactivity Ensaem1(IMPC)J HOM Early adult 8.29×10-16

Download data as:  TSV  XLS

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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Combined SHIRPA and Dysmorphology

Images

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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Schizophrenia 15
Hyperactivity OMIM:613950
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Anorexia, Decreased body weight ORPHA:99852
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperprolinemia, EEG abnormality, Abnormal repetitive mannerisms OMIM:239500
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials 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
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Failure to thrive, Hypocalcemia ORPHA:163693
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia OMIM:605899
Autoimmune Hypoparathyroidism
Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... ORPHA:36913
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hypotonia-Cystinuria Syndrome
Failure to thrive, Posteriorly rotated ears, Facial palsy, Hypocalcemia, Macrotia, Polyphagia OMIM:606407
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Hearing impairment, Aggressive behavior ORPHA:208441
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Hearing impairment, Aggressive behavior OMIM:620270
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Large earlobe, Abnormal antihelix morphology, Hypocalcemia, Low-... ORPHA:1438
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggressive behavior,... ORPHA:3077
Hartnup Disorder
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment, Aggressive behavior OMIM:248510
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Landau-Kleffner Syndrome
Interictal EEG abnormality, Hyperactivity, EEG with frontal focal spikes, Impulsivity, Aggressive... ORPHA:98818
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... OMIM:609425
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Depression, Irritability, Com... OMIM:261600
Oculoskeletodental Syndrome
Hypercalcemia, Sensorineural hearing impairment, Hypocalcemia, Conductive hearing impairment, Hea... ORPHA:557003
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Adamantinoma
Hypercalcemia ORPHA:55881
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Intermediate Osteopetrosis
Cranial nerve compression, Hypocalcemia, Optic atrophy from cranial nerve compression ORPHA:210110
Albers-Schönberg Osteopetrosis
Facial palsy, Optic atrophy, Hypocalcemia, Hearing impairment ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures OMIM:264700
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity OMIM:612462
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, EEG abnormality, Low-set ears, Bruxism, Abnormal repetiti... OMIM:618718
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Pseudohypoparathyroidism Type 1B
Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94089
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
X-Linked Agammaglobulinemia
Sensorineural hearing impairment, Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Facial palsy, Optic atrophy, Hypocalcemia, Facial paralysis, Hearing impairment OMIM:259700
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Aggressive behavior, Prominent crus of helix, Obesity, Attention deficit hyperacti... OMIM:301013
Pseudohypoparathyroidism Type 1C
Calcinosis, Obesity, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic teta... ORPHA:79444
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypocalcemia, Hypophosphatemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Hypocalcemic seizures OMIM:241410
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Autosomal Dominant Hypocalcemia
Optic atrophy, Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability ORPHA:428
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, EEG abnormality, Self-injurious behavior, Elevated circulatin... OMIM:271980
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hypophosphatasia
Irritability, Failure to thrive in infancy, Hypercalcemia ORPHA:436
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures ORPHA:289157
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Hypocalcemia, Hearing impairment OMIM:618440
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... ORPHA:94093
Rhabdoid Tumor
Irritability, Hypercalcemia, Weight loss ORPHA:69077
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Inappropriate laughter, Hypocalcemia OMIM:618476
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Celiac Disease, Susceptibility To, 1
Weight loss, Depression, Hypocalcemia, Steatorrhea, Failure to thrive OMIM:212750
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Hypercalcemia ORPHA:2668
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Abnormal pinna morphology, Sensorineural hearing impairment, Hypocalce... OMIM:607143
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... ORPHA:247353
Cholera
Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia ORPHA:173
Pseudohypoparathyroidism Type 1A
Calcinosis, Sensorineural hearing impairment, Obesity, Depression, Irritability, Hyperphosphatemi... ORPHA:79443
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, EEG abnormality, Inappropriate laughter, Polyphagia ORPHA:411515
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypomagnesemia OMIM:618183
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Timothy Syndrome
Hypocalcemia OMIM:601005
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, EEG with generalized polyspikes, Obesity, EEG with generalize... ORPHA:163681
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Optic atrophy, Hypokalemia, Hypocalcemia, Dysphagia OMIM:617913
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Cranial nerve compression, Weight loss, Conductive hearing imp... ORPHA:94080
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia OMIM:602361
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... ORPHA:100924
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Papilledema, Small for gestational age, Hyperphosphatemia, Hypocalcemia OMIM:127000
Ethylene Glycol Poisoning
Facial palsy, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia ORPHA:31826
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Failure to thrive, Hypocalcemia ORPHA:3426
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Irritability, Failure to thrive, Optic atrophy OMIM:616881
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Failure to thrive, Hypsarrhythmia OMIM:619239
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Optic atrophy, Irritability, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Irritability, Failure to thrive OMIM:241500
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior OMIM:612716
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Low-set ears OMIM:235255
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Velocardiofacial Syndrome
Emotional lability, Hypocalcemia, Aggressive behavior OMIM:192430
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity disorde... ORPHA:476126
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... ORPHA:37042
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia, Polydipsia, Failure to thrive OMIM:239200
Late-Onset Isolated Acth Deficiency
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypercalcemia, Anore... ORPHA:199299
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Low-set ears OMIM:614732
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral sensorineural hear... ORPHA:2306
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Pearson Syndrome
Small for gestational age, Hypomagnesemia, Dysphagia, Steatorrhea, Hypokalemia, Hypocalcemia, Hyp... ORPHA:699
Gitelman Syndrome
Salt craving, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteron... ORPHA:358
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... OMIM:620242
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Acute Adrenal Insufficiency
Hyponatremia, Orthostatic hypotension, Salt craving, Decreased circulating cortisol level, Hyperc... ORPHA:95409
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Hair-pulling,... OMIM:620330
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia, Low-set ears ORPHA:1655
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Failure to thrive, Aganglionic megacolon, EEG abnormality, Hyp... ORPHA:175
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Polyphagia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Depression, Irritability, Self-injurious behavior, ... ORPHA:449291
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, EEG abnormality, Attention deficit hyperactivity disorder, Ab... OMIM:610042
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Obesity OMIM:103580
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Optic atrophy, Overfolded helix, Obesity, Depression, Hypocalcemia, Attent... ORPHA:567
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... ORPHA:206436
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97289
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Elevated circulating creatine kinase concentration, Cranial nerve compression,... ORPHA:2785
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Addison Disease
Hyponatremia, Orthostatic hypotension, Salt craving, Decreased circulating cortisol level, Hyperc... ORPHA:85138
Arthrogryposis, Distal, Type 2A
Failure to thrive, Small for gestational age, Abnormal auditory evoked potentials, Hearing impair... OMIM:193700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Cranial nerve compression, Weight loss, Conductive hearing imp... ORPHA:276621
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Craniofacioskeletal Syndrome
Microtia, Posteriorly rotated ears, Hypocalcemia OMIM:300712
Charcot-Marie-Tooth Disease Type 1F
Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... ORPHA:401973
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Microtia, Posteriorly rotated ears, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hennekam Syndrome
Conductive hearing impairment, External ear malformation, Hypocalcemia, Low-set ears ORPHA:2136
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hearing impairment, Hypophosphatemia OMIM:156400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Failure to thrive, Impulsivity, Hypomagnesemia, Dysphagia, EEG abnorm... OMIM:619503
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Failur... OMIM:613658
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... ORPHA:909
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures, Hearing impairment OMIM:277440
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Hypocalcemia, Hearing impairment, Hypophosphatemia ORPHA:667
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Multifocal epileptiform discharges, Obesity, EEG with genera... ORPHA:369837
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment, Hypercalcemia OMIM:602080
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Monosomy 13Q34
Abnormal earlobe morphology, Posteriorly rotated ears, Hypercalcemia, Obesity ORPHA:96168
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Trisomy 10P
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, EEG wit... ORPHA:171929
Cranioectodermal Dysplasia 1
Hypocalcemia, Low-set ears, Protruding ear OMIM:218330
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Optic atrophy, Increased blood urea nitro... ORPHA:90321
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Cranial nerve compression, Weight loss, Conductive hearing imp... ORPHA:29072
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp... OMIM:601678
Glucagonoma
Hypercalcemia, Anorexia, Depression, Weight loss, Increased circulating cortisol level, Steatorrhea ORPHA:97280
Somatostatinoma
Hypercalcemia, Anorexia, Weight loss, Increased circulating cortisol level, Steatorrhea ORPHA:97283
Ppoma
Increased circulating cortisol level, Hypercalcemia, Anorexia, Weight loss ORPHA:97278
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Vipoma
Hypercalcemia, Anorexia, Weight loss, Hypokalemia, Increased circulating cortisol level ORPHA:97282
Charge Syndrome
Mixed hearing impairment, Facial palsy, Lop ear, Aplasia of the semicircular canal, Sensorineural... OMIM:214800
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Papilledema, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Digeorge Syndrome
Low-set ears, Hypocalcemia, Attention deficit hyperactivity disorder, Obesity OMIM:188400
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Hypercalcemia, Hearing impairment, Hypophosphatemia ORPHA:249
Parathyroid Carcinoma
Hypercalcemia, Weight loss, Hypophosphatemia, Dysphagia, Polydipsia ORPHA:143
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Grfoma
Increased circulating cortisol level, Hypercalcemia, Anorexia, Weight loss ORPHA:97261
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Failure to thrive ORPHA:83471
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypercalcemia, Dysphagia, Hypophosphatemia ORPHA:99880
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss ORPHA:29073
Cockayne Syndrome B
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Decrea... OMIM:133540
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impairment, Renal hypophosph... ORPHA:289176
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia OMIM:131100
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Weight loss ORPHA:99819
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Cranial nerve compression, Depression, Weight loss, Increased circulatin... ORPHA:652
Pheochromocytoma
Hypercalcemia OMIM:171300
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:913
Johanson-Blizzard Syndrome
Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi... OMIM:243800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Williams Syndrome
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Hypercalcemia, Elevated circulat... ORPHA:904
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Hypercalcemia, Ganglioneuromatosis ORPHA:653
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Hypercalcemia ORPHA:276152
Williams-Beuren Syndrome
Failure to thrive in infancy, Hypercalcemia, Sensorineural hearing impairment, Obesity, Large ear... OMIM:194050
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Optic atrophy, Hypocalcemic seizures OMIM:612301
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Sotos Syndrome
Aganglionic megacolon, Hypercalcemia, Aggressive behavior, Attention deficit hyperactivity disord... ORPHA:821
Sarcoidosis
Facial palsy, Hypercalcemia, Weight loss 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

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
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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