Gene Summary

Name:
endosulfine alpha
Synonyms:
1700020C18Rik,  2610007F17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 9.45×10-07
hyperactivity Ensaem1(IMPC)J HOM Early adult 2.26×10-18
abnormal auditory brainstem response Ensaem1(IMPC)J HOM   Early adult 1.48×10-06
abnormal cholesterol homeostasis Ensaem1(IMPC)J HOM   Early adult 4.21×10-06
increased lean body mass Ensaem1(IMPC)J HOM Early adult 8.61×10-05
decreased circulating cholesterol level Ensaem1(IMPC)J HOM Early adult 4.19×10-05

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.

Electrocardiogram (ECG)

Waveform Image

16 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

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

8 Images

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
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steatorrhea, Decrea... OMIM:246700
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hypertriglyceridemia 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:619324
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Immunodeficiency 8
Hyperactivity OMIM:615401
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Hearing impairment OMIM:619658
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Abcd Syndrome
Large for gestational age, Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing im... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Failure to thrive, Hypocalcemia ORPHA:163693
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Failure to thrive, Decreased LDL ch... OMIM:616834
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Hyperlipoproteinemia, Type Ii, And Deafness
Hearing impairment, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholester... OMIM:144300
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity, Decreased body weight OMIM:608747
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Ring Chromosome 10 Syndrome
Large earlobe, Low-set ears, Hypocalcemia, Aganglionic megacolon, Abnormal antihelix morphology, ... ORPHA:1438
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Potocki-Lupski Syndrome
EEG abnormality, Small for gestational age, Hyperactivity, Failure to thrive, Hypocholesterolemia... OMIM:610883
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Adamantinoma
Hypercalcemia ORPHA:55881
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Failure to thrive, Macrotia, Posteriorly rotated ears, Facial palsy OMIM:606407
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Failure to thrive, Sensorineural hearing impairment, Steatorrhea OMIM:266510
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, EEG abnormality OMIM:239500
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Oculocerebrodental Syndrome
Hypercalcemia, Conductive hearing impairment, Hypocalcemia, Sensorineural hearing impairment, Hea... ORPHA:557003
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elevated circulating methylsuccinic acid concentrat... OMIM:618156
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Papilledema OMIM:240150
Albers-Sch├Ânberg Osteopetrosis
Facial palsy, Hypocalcemia, Optic atrophy, Hearing impairment ORPHA:53
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Low-set ears, Hypocalcemia, Hyperphosphatemia, Posteriorly rotated ears OMIM:241410
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:398063
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
X-Linked Agammaglobulinemia
Sensorineural hearing impairment, Failure to thrive, Hypocalcemia, Weight loss ORPHA:47
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia OMIM:615924
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Failure to thrive, Facial palsy, Facial paralysis, Optic atrophy, Hearing impairment OMIM:259700
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Timothy Syndrome
Hypocalcemia OMIM:601005
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Low-set ears, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia, Cachexia OMIM:175500
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Failure to thrive, Hypocalcemia, Small for gestational age OMIM:607143
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Hypercalcemia ORPHA:2668
Oculoskeletodental Syndrome
Hearing impairment, Hypocalcemia, Hypercalcemia, Small for gestational age OMIM:618440
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Failure to thrive, Hyperbil... OMIM:605814
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age ORPHA:85288
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:607765
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Optic atrophy OMIM:618476
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Small for gestational age, Hyperactivity, Failure to thrive, Posteriorly rotated ea... OMIM:609425
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Blue Diaper Syndrome
Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Steatorrhea ORPHA:71
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Weight loss ORPHA:90362
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Sensorineural hearing impairment, Elevated circulati... ORPHA:96180
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Hyperactivity, EEG with generalized epileptiform discharg... ORPHA:88616
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity ORPHA:2382
Dihydropyrimidine Dehydrogenase Deficiency
Failure to thrive, Hyperactivity, Optic atrophy OMIM:274270
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Small for gestational age, Hypocalcemia, Papilledema, Hyperphosphatemia OMIM:127000
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity OMIM:605899
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia OMIM:602361
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Failure to thrive, Hypocalcemia ORPHA:3426
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Decreased body weight, Low-set ears OMIM:618342
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Abnormal autonomic nervous system physiology, Hyperuric... ORPHA:94093
Non-Functioning Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Conductive hearing impairment, Cranial nerve compression, Weig... ORPHA:94080
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia, Low-set ears OMIM:614732
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529799
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Hypophosphatasia
Hypercalcemia, Failure to thrive in infancy ORPHA:436
Celiac Disease, Susceptibility To, 1
Failure to thrive, Hypocalcemia, Weight loss, Steatorrhea OMIM:212750
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Low-set ears OMIM:235255
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Landau-Kleffner Syndrome
Hyperactivity, EEG with generalized epileptiform discharges, Interictal EEG abnormality, EEG with... ORPHA:98818
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Obesity, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany ORPHA:79444
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Optic disc pallor, Hyperbilirubinemia, Facial palsy, Optic atrophy OMIM:259720
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy ORPHA:746
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia OMIM:618314
Hypercalcemia, Infantile, 1
Failure to thrive, Infantile hypercalcemia, Weight loss OMIM:143880
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Optic atrophy ORPHA:428
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Smith-Magenis Syndrome
EEG abnormality, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Morphological abnorma... OMIM:182290
Phenylketonuria
Hyperactivity, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Attention deficit hyperacti... OMIM:261600
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Sensorineural hearing impairment, Hypocalcemia, Obesity, Calcinosis, Hyper... ORPHA:79443
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Obesity, Macrotia, Abnormality of superior crus of antihe... OMIM:301013
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Abnormal blood ion concentration, Hypocalcemia, Cachexia, Hypoalbum... ORPHA:37042
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Interictal epileptiform ... ORPHA:1929
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Optic Atrophy 11
Hyperactivity, Macrotia, Facial diplegia, Optic atrophy, Hearing impairment OMIM:617302
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Pseudohypoparathyroidism, Type Ia
Obesity, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Hyperactivity, EEG abnormality OMIM:271980
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Low-set ears ORPHA:1655
Cartilage-Hair Hypoplasia
EEG abnormality, Hypocalcemia, Aganglionic megacolon, Low-set, posteriorly rotated ears, Failure ... ORPHA:175
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Failure to thrive, Macrotia, Hypoalbuminemia OMIM:212065
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Prelingual sensorineural hearing impairment, Sensorineural hearing imp... ORPHA:73272
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Macrotia OMIM:615541
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97289
Ethylene Glycol Poisoning
Facial palsy, Hypocalcemia, Hyperkalemia ORPHA:31826
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
EEG abnormality, Hyperactivity, Obesity ORPHA:411515
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Pearson Syndrome
Hypokalemia, Small for gestational age, Hypocalcemia, Hypophosphatemia, Hypomagnesemia, Hyperalan... ORPHA:699
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Low-set ears OMIM:618718
Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hyperactivity, Obesity, Hypocalcemia ORPHA:280651
Gitelman Syndrome
Tinnitus, Hypokalemia, Hypocalcemia, Failure to thrive, Hypermagnesemia, Hypomagnesemia, Primary ... ORPHA:358
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hyperbilirubinem... ORPHA:14
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Alg12-Cdg
Hyponatremia, Sensorineural hearing impairment, Failure to thrive, Hypoalbuminemia, Abnormal pinn... ORPHA:79324
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Hypocalcemia, Elevated circulating creatine kinase concentration, ... ORPHA:2785
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Failure to thrive, Hypercalcemia OMIM:241500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Optic atrophy, Hearing impairment ORPHA:369939
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Increased circulating ferritin concent... ORPHA:3240
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia OMIM:612716
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Craniofacioskeletal Syndrome
Hypocalcemia, Microtia, Posteriorly rotated ears OMIM:300712
22Q11.2 Deletion Syndrome
Small earlobe, Low-set ears, Conductive hearing impairment, Hypocalcemia, Obesity, Aganglionic me... ORPHA:567
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Failure to thrive, Optic disc pallor, Low-set ears OMIM:244450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Microtia, Posteriorly rotated ears ORPHA:163979
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Interictal epileptiform activity, EEG with irregular generali... ORPHA:1942
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Hyper... ORPHA:199299
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Conductive hearing impairment, Cranial nerve compression, Weig... ORPHA:276621
Acute Adrenal Insufficiency
Orthostatic hypotension, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkal... ORPHA:95409
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hyperactivity, Elevated plasma citrulline,... ORPHA:247585
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment, Failure to thrive, Small for gestational... OMIM:193700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Obesity, Focal EEG discharges with secondary generalization ORPHA:3077
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia, Hearing impairment OMIM:156400
Tangier Disease
Hypocholesterolemia, Facial diplegia, Hypertriglyceridemia ORPHA:31150
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Optic nerve compression, Hearing impairment ORPHA:667
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Attention deficit hyperactivity disorder ORPHA:476126
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Hypercalcemia, Obesity, EEG with spike-wave complexes, Multifocal epileptiform disc... ORPHA:369837
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Obesity, Hypercalcemia ORPHA:251004
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Mend Syndrome
Elevated 8-dehydrocholesterol, Low-set ears, Hyperactivity, Abnormal auditory evoked potentials, ... ORPHA:401973
Hennekam Syndrome
External ear malformation, Conductive hearing impairment, Hypocalcemia, Low-set ears ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Slender build, Hypocalcemia, Failure to thrive, Hypoalbuminemia, Uncon... OMIM:613658
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Low-set ears, Hyperactivity, Aganglionic megacolon, Failure to thr... OMIM:270400
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Cln5 Disease
EEG with generalized slow activity, Hyperactivity, EEG with spike-wave complexes, Multifocal epil... ORPHA:228360
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Small for gestational age, Hypochloremia, Increased circulating renin level, Hyperca... OMIM:601678
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Infantile Krabbe Disease
Decreased nerve conduction velocity, Failure to thrive, Prolonged brainstem auditory evoked poten... ORPHA:206436
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Monosomy 13Q34
Abnormal earlobe morphology, Infantile hypercalcemia, Obesity, Posteriorly rotated ears ORPHA:96168
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Hypercalcemia, Conductive hearing impairment, Cranial nerve compression, Weig... ORPHA:29072
Addison Disease
Orthostatic hypotension, Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkal... ORPHA:85138
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Hypophosphatemia, Hypocalcemic seizures, Hearing impairment OMIM:277440
Cockayne Syndrome Type 1
Hearing impairment, Increased blood urea nitrogen, Failure to thrive, Macrotia, Absent brainstem ... ORPHA:90321
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, EEG with series of focal spikes, EEG with photoparoxysmal res... ORPHA:168491
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Abnormal circulating creatine concentration, Cachexia ORPHA:52503
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Interictal epileptiform activity, Hyperactivity, Obesity, EEG... ORPHA:163681
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Papilledema ORPHA:93325
Fibrous Dysplasia Of Bone
Hearing impairment, Hypercalcemia, Hypophosphatemia, Increased circulating cortisol level ORPHA:249
Trisomy 10P
Small for gestational age, Low-set ears, EEG with burst suppression, Abnormal auditory evoked pot... ORPHA:171929
Digeorge Syndrome
Hypocalcemia, Obesity, Low-set ears, Attention deficit hyperactivity disorder OMIM:188400
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve conduction velo... ORPHA:909
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
EEG abnormality, Low-set ears, Hypocalcemia, Failure to thrive, Macrotia, Congenital Horner syndr... OMIM:619503
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Thymic Aplasia
Failure to thrive, Hypocalcemic tetany ORPHA:83471
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Multiple Myeloma
Elevated circulating creatinine concentration, Weight loss, Hypercalcemia, Hyperproteinemia ORPHA:29073
Somatostatinoma
Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea ORPHA:97283
Vipoma
Hypercalcemia, Hypokalemia, Weight loss, Increased circulating cortisol level ORPHA:97282
Mastocytosis
Hypercalcemia ORPHA:98292
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, EEG abnormality OMIM:610042
Ppoma
Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97278
Charge Syndrome
Cupped ear, Low-set ears, Sensorineural hearing impairment, Aplasia of the semicircular canal, Hy... OMIM:214800
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Weight loss, Hypercalcemia ORPHA:143
Johanson-Blizzard Syndrome
Small for gestational age, Sensorineural hearing impairment, Hypocalcemia, Failure to thrive, Inc... OMIM:243800
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia, Weight loss ORPHA:88673
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Hyperactivity, Hypouricemia ORPHA:760
Glucagonoma
Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea ORPHA:97280
Cockayne Syndrome B
Small for gestational age, Sensorineural hearing impairment, Decreased nerve conduction velocity,... OMIM:133540
Zollinger-Ellison Syndrome
Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:913
Pheochromocytoma
Hypercalcemia OMIM:171300
Grfoma
Hypercalcemia, Weight loss, Increased circulating cortisol level ORPHA:97261
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Cockayne Syndrome A
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked p... OMIM:216400
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Brooks-Wisniewski-Brown syndrome
EEG abnormality, Cupped ear, Small for gestational age, Low-set ears, Hyperactivity, Posteriorly ... OMIM:300612
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Hypercalcemia, Ganglioneuromatosis ORPHA:653
Legius Syndrome
Hearing impairment, Hyperactivity, Xanthelasma, Vestibular schwannoma, Attention deficit hyperact... ORPHA:137605
Hypophosphatemic Rickets
Failure to thrive, Hypophosphatemia, Hypercalcemia ORPHA:437
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Primary hypercortisolism, Cranial nerve compression, Weight loss, Increased circul... ORPHA:652
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Optic atrophy, Hypocalcemic seizures OMIM:612301
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Argininemia
Hyperactivity, Hyperargininemia, Hyperammonemia OMIM:207800
Williams Syndrome
Failure to thrive in infancy, Hypercalcemia, Sensorineural hearing impairment, Abnormal circulati... ORPHA:904
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss ORPHA:99819
Williams-Beuren Syndrome
Large earlobe, Failure to thrive in infancy, Hypercalcemia, Sensorineural hearing impairment, Obe... OMIM:194050
Sotos Syndrome
Hypercalcemia, Conductive hearing impairment, Aganglionic megacolon, Cholesteatoma, Hearing impai... ORPHA:821
Sarcoidosis
Facial palsy, Weight loss, Hypercalcemia 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.

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

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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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