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
increased lean body mass Ensaem1(IMPC)J HOM Early adult 8.85×10-05
abnormal cholesterol homeostasis Ensaem1(IMPC)J HOM   Early adult 3.07×10-05
decreased circulating calcium level Ensaem1(IMPC)J HOM Early adult 2.24×10-07
hyperactivity Ensaem1(IMPC)J HOM Early adult 2.54×10-18
abnormal auditory brainstem response Ensaem1(IMPC)J HOM   Early adult 3.65×10-06

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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.

Combined SHIRPA and Dysmorphology

Images

1 Images

Electrocardiogram (ECG)

Waveform Image

16 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
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses 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
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Low-set ears, Hyperactivity ORPHA:436151
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Hearing impairment OMIM:619658
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Ravine Syndrome
Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive ORPHA:99852
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia, Failure to thrive ORPHA:163693
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive ORPHA:172
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia OMIM:620152
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94090
Hypotonia-Cystinuria Syndrome
Polyphagia, Posteriorly rotated ears, Failure to thrive, Facial palsy, Macrotia, Hypocalcemia OMIM:606407
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Ring Chromosome 10 Syndrome
Low-set ears, Abnormal antihelix morphology, Cachexia, Aganglionic megacolon, Hypocalcemia, Large... ORPHA:1438
Developmental And Epileptic Encephalopathy 104
Hypsarrhythmia, Hyperactivity, Agitation OMIM:619970
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Adamantinoma
Hypercalcemia ORPHA:55881
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... OMIM:617519
Oculoskeletodental Syndrome
Conductive hearing impairment, Hearing impairment, Hypocalcemia, Sensorineural hearing impairment... ORPHA:557003
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration OMIM:179800
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Hyperprolinemia, Type I
EEG abnormality, Hyperprolinemia, Hyperactivity OMIM:239500
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Intermediate Osteopetrosis
Optic atrophy from cranial nerve compression, Cranial nerve compression, Hypocalcemia ORPHA:210110
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Albers-Sch├Ânberg Osteopetrosis
Facial palsy, Optic atrophy, Hypocalcemia, Hearing impairment ORPHA:53
Intellectual Developmental Disorder, X-Linked 101
Macrotia, Optic atrophy, Hyperactivity OMIM:300928
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity OMIM:612462
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypocalcemia, Hypoalbuminemia, Weight loss, Hypomagnesemia ORPHA:398063
X-Linked Agammaglobulinemia
Hypocalcemia, Sensorineural hearing impairment, Weight loss, Failure to thrive ORPHA:47
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Cachexia, Hypokalemia, Hypomagnesemia OMIM:175500
Glycine Encephalopathy 1
Hyperglycinemia, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Osteopetrosis, Autosomal Recessive 1
Hearing impairment, Failure to thrive, Facial palsy, Hypocalcemia, Optic atrophy, Facial paralysis OMIM:259700
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:600081
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Posteriorly rotated ears, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:264700
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Hypercalcemia ORPHA:2668
Oculoskeletodental Syndrome
Small for gestational age, Hypocalcemia, Hypercalcemia, Hearing impairment OMIM:618440
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Overweight, Hyperammonemia, Elevated circulating crea... ORPHA:26793
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Attention deficit hyperactivity disorder, Dysphagia, Abnorma... ORPHA:52368
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Neuroleptic Malignant Syndrome
Hyperuricemia, Agitation, Abnormal autonomic nervous system physiology, Hyperphosphatemia, Elevat... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Abnormal pinna morphology, Failure to thrive, Hypocalcemia, Sensorineu... OMIM:607143
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, EEG with focal sharp slow waves ORPHA:2382
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Landau-Kleffner Syndrome
EEG with generalized epileptiform discharges, Hyperactivity, EEG with temporal focal spikes, Atte... ORPHA:98818
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoalbuminemia ORPHA:90362
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia OMIM:618183
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... ORPHA:31824
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia, Increased body weight ORPHA:94086
Hypercalcemia, Infantile, 1
Hypercalcemia, Weight loss, Failure to thrive OMIM:143880
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Failure to thrive, Polydipsia, Hypocal... ORPHA:411634
Timothy Syndrome
Hypocalcemia OMIM:601005
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Failure to thrive ORPHA:289157
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis ORPHA:94089
Pseudohypoparathyroidism Type 1C
Polyphagia, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinos... ORPHA:79444
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Papilledema, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Gracile Bone Dysplasia
Hypocalcemia, Failure to thrive OMIM:602361
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hyperphosphatemia, External ear malformation, Hypocalcemia ORPHA:2323
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypokalemia, Dysphagia, Hypocalcemia, Optic atrophy, Hyponatremia, Calcinosis OMIM:617913
Double Outlet Right Ventricle
Hypocalcemia, Abnormality of cartilage of external ear, Failure to thrive ORPHA:3426
Non-Functioning Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Hypercalcemia, Weig... ORPHA:94080
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Celiac Disease, Susceptibility To, 1
Steatorrhea, Hypocalcemia, Weight loss, Failure to thrive OMIM:212750
Pseudohypoparathyroidism Type 1A
Polyphagia, Hypocalcemic seizures, Hyperphosphatemia, Sensorineural hearing impairment, Hypocalce... ORPHA:79443
Cholera
Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypokalemia ORPHA:173
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Attention deficit hyperactivity disorder, Decreas... ORPHA:206443
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Hypocalcemia OMIM:618476
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Neonatal hyperbilirubinemia, Sensorineural hearing impairmen... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Neonatal hyperbilirubinemia, Sensorineural hearing impairmen... ORPHA:529799
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Rhabdoid Tumor
Hypercalcemia, Weight loss ORPHA:69077
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Attention deficit hyperactivity disorder, Abnormality of ... OMIM:301013
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Low-set ears, Hypocalcemia OMIM:235255
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Low-set ears, Hypercalcemia OMIM:614732
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Ethylene Glycol Poisoning
Alcoholism, Facial palsy, Hypocalcemia, Hyperkalemia ORPHA:31826
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, EEG with burst suppression, Hyperactivity, Failure to thrive OMIM:619239
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia, Weight loss, Failure to thrive ORPHA:35710
Autosomal Dominant Hypocalcemia
Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hearing impairment, Atresia of the e... ORPHA:2306
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Failure to thrive in infancy, Decreased prealbumin level, Cache... ORPHA:37042
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Hyperbilirubinemia, Facial palsy, Hypocalcemia, Optic atrophy OMIM:259720
Pearson Syndrome
Small for gestational age, Hypophosphatemia, Steatorrhea, Hyperalaninemia, Hypokalemia, Hearing i... ORPHA:699
Gitelman Syndrome
Tinnitus, Hypokalemia, Hypermagnesemia, Failure to thrive, Salt craving, Polydipsia, Primary hype... ORPHA:358
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Low-set ears, Hypocalcemia ORPHA:1655
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Failure to thrive, Polydipsia, Calcinosis OMIM:239200
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Elevated circulating creatine kinase... ORPHA:36234
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, EEG abnormality, Aganglionic megacolon, Failure to thrive, Mac... ORPHA:175
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Obesity OMIM:103580
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hyperactivity, Bilateral sensorineural hearing impairment, Truncal obe... ORPHA:73272
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia OMIM:618314
Acute Adrenal Insufficiency
Hypercalcemia, Increased circulating renin level, Hyperuricemia, Failure to thrive, Salt craving,... ORPHA:95409
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97289
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Decreased circulating cortisol level, Failure to thrive, Hyperkalemia, Orthostatic... ORPHA:199299
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen, Obesity ORPHA:251004
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Hyperactivity, Obesity ORPHA:280651
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Failure to thrive OMIM:241500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Failure to thrive OMIM:616881
22Q11.2 Deletion Syndrome
Low-set ears, Conductive hearing impairment, Attention deficit hyperactivity disorder, Aganglioni... ORPHA:567
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Osteopetrosis With Renal Tubular Acidosis
Conductive hearing impairment, Elevated circulating creatine kinase concentration, Failure to thr... ORPHA:2785
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Arthrogryposis, Distal, Type 2A
Small for gestational age, Abnormal auditory evoked potentials, Hearing impairment, Failure to th... OMIM:193700
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Hypocalcemia, Microtia OMIM:300712
Citrullinemia Type Ii
Abnormal eating behavior, Hypoproteinemia, Decreased body mass index, Hyperactivity, Restlessness... ORPHA:247585
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Hypercalcemia, Weig... ORPHA:276621
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Posteriorly rotated ears, Hypocalcemia, Microtia ORPHA:163979
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hearing impairment OMIM:156400
Hennekam Syndrome
Low-set ears, Conductive hearing impairment, Hypocalcemia, External ear malformation ORPHA:2136
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Slender build, Failure to thrive, Unconjugated hyperbilirubinemia, Hyp... OMIM:613658
Infantile Krabbe Disease
Decreased nerve conduction velocity, Cachexia, Hearing impairment, Failure to thrive, Prolonged b... ORPHA:206436
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Hypophosphatemia, Hypocalcemia, Hearing impairment ORPHA:667
Paget Disease Of Bone 2, Early-Onset
Bilateral conductive hearing impairment, Hypercalcemia OMIM:602080
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Addison Disease
Hypercalcemia, Increased circulating renin level, Hyperuricemia, Failure to thrive, Salt craving,... ORPHA:85138
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Hypercalcemia, Failure to thrive ORPHA:476126
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Dysphagia, Abnormal ... ORPHA:99027
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, EEG with spike-wave complexes, EEG with generalized sharp slow waves, Hearing impai... ORPHA:369837
Monosomy 13Q34
Posteriorly rotated ears, Abnormal earlobe morphology, Hypercalcemia, Obesity ORPHA:96168
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Hyperactivity, Sensorineural hearing impairment OMIM:608747
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hypocalcemia, Hyperkalemia ORPHA:544482
Cranioectodermal Dysplasia 1
Low-set ears, Hypocalcemia, Protruding ear OMIM:218330
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Increased blood urea nitrogen, Hearing impairment, Failure t... ORPHA:90321
Mend Syndrome
Low-set ears, Elevated 8(9)-cholestenol, Hyperactivity, Failure to thrive, Abnormal auditory evok... ORPHA:401973
Trisomy 10P
Small for gestational age, Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rota... ORPHA:171929
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Cranial nerve compression, Pulsatile tinnitus, Hypercalcemia, Weig... ORPHA:29072
Bartter Syndrome, Type 1, Antenatal
Hyperaldosteronism, Small for gestational age, Hypochloremia, Hyperchloriduria, Increased circula... OMIM:601678
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Hyperalani... OMIM:619991
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, EEG abnormality, Failure to thrive, Dysphagia, Hypomagnesemia, Macrotia, Hypocalcem... OMIM:619503
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Cerebrotendinous Xanthomatosis
Agitation, Optic neuropathy, Abnormal motor evoked potentials, Attention deficit hyperactivity di... ORPHA:909
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hearing impairment, Hypophosphatemia, Failure to thrive OMIM:277440
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Hypophosphatemia, Hypercalcemia, Hearing impairment ORPHA:249
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia ORPHA:405
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Absent brainstem audit... OMIM:609136
Digeorge Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Hypocalcemia, Obesity OMIM:188400
Parathyroid Carcinoma
Hypophosphatemia, Dysphagia, Polydipsia, Hypercalcemia, Weight loss ORPHA:143
Charge Syndrome
Low-set ears, Lop ear, Mixed hearing impairment, Dysphagia, Facial palsy, Cupped ear, Sensorineur... OMIM:214800
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Failure to thrive ORPHA:83471
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Sensorineural hearing impairment, Hypophosphatemic r... ORPHA:289176
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss ORPHA:29073
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses ORPHA:79330
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia, Weight loss ORPHA:88673
Cockayne Syndrome B
Small for gestational age, Abnormal pinna morphology, Decreased nerve conduction velocity, Failur... OMIM:133540
Somatostatinoma
Increased circulating cortisol level, Steatorrhea, Hypercalcemia, Weight loss ORPHA:97283
Mastocytosis
Hypercalcemia ORPHA:98292
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia OMIM:131100
Vipoma
Increased circulating cortisol level, Hypokalemia, Hypercalcemia, Weight loss ORPHA:97282
Ppoma
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97278
Cockayne Syndrome A
Abnormal pinna morphology, Decreased nerve conduction velocity, Failure to thrive, Abnormal audit... OMIM:216400
Pheochromocytoma
Hypercalcemia OMIM:171300
Glucagonoma
Increased circulating cortisol level, Steatorrhea, Hypercalcemia, Weight loss ORPHA:97280
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:913
Grfoma
Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97261
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Agitation, Hyperactivity, Weight loss ORPHA:424
Johanson-Blizzard Syndrome
Small for gestational age, Conjugated hyperbilirubinemia, Failure to thrive, Sensorineural hearin... OMIM:243800
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Weight loss ORPHA:99819
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia, Failure to thrive ORPHA:437
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Hypercalcemia, Ganglioneuromatosis ORPHA:653
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Primary hypercortisolism, Cranial nerve compression, Hyperc... ORPHA:652
Williams Syndrome
Low-set, posteriorly rotated ears, Abnormal circulating lipid concentration, Overfriendliness, Pr... ORPHA:904
Osteopetrosis, Autosomal Recessive 7
Optic nerve compression, Optic atrophy, Hypocalcemic seizures OMIM:612301
Williams-Beuren Syndrome
Failure to thrive in infancy, Attention deficit hyperactivity disorder, Sensorineural hearing imp... OMIM:194050
Sarcoidosis
Facial palsy, Hypercalcemia, Weight loss ORPHA:797
Sotos Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Aganglionic megacolon, H... ORPHA:821

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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