Gene: Dgke MGI:1889276

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Gene Summary

Name:
diacylglycerol kinase, epsilon
Synonyms:
DAGK6

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
hyperactivity Dgkeem1(IMPC)Tcp HOM   Early adult 8.11×10-05
decreased circulating creatinine level Dgkeem1(IMPC)Tcp HOM Early adult 3.95×10-05
abnormal sternum morphology Dgkeem1(IMPC)Tcp HOM Early adult 0.00
abnormal testis morphology Dgkeem1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

Histopathology

Images

15 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Dgke 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.

The table below shows human diseases associated to Dgke by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 7
OMIM:615008

The table below shows human diseases predicted to be associated to Dgke by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... OMIM:600512
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure OMIM:611364
Epilepsy, Familial Temporal Lobe, 8
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... OMIM:616461
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... OMIM:615400
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... OMIM:604352
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mental Retardation, Autosomal Dominant 52
Cryptorchidism, Hyperactivity OMIM:617796
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 9
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... OMIM:300088
Epilepsy, Myoclonic Juvenile
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... OMIM:254770
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... OMIM:604233
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... OMIM:613863
Myoclonic Epilepsy, Familial Infantile
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... OMIM:605021
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... OMIM:121200
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... OMIM:600669
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... OMIM:615697
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... OMIM:613060
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... OMIM:618357
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Immunodeficiency 8
Hyperactivity OMIM:615401
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607631
Developmental And Epileptic Encephalopathy 26
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:616056
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... OMIM:615369
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... OMIM:607682
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... ORPHA:306
Seizures, Benign Familial Neonatal, Autosomal Recessive
Bilateral tonic-clonic seizure OMIM:269720
Dravet Syndrome
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... OMIM:607208
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... ORPHA:101046
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Focal se... ORPHA:139426
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:1941
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Hyperprolinemia, Type I
Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, Hyperprolinemia, Hyperactivity OMIM:239500
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Clinodactyly, Radial deviation of finger OMIM:608747
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Continuous Spikes And Waves During Sleep
Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, F... ORPHA:725
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:609446
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Smith-Magenis syndrome
Brachydactyly, Hyperactivity DECIPHER:8
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Unilateral Hemispheric Polymicrogyria
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure, Infantile spasms, Gene... ORPHA:101071
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Lennox-Gastaut Syndrome
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, M... ORPHA:2382
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:613608
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... OMIM:618873
Glycine Encephalopathy
Hyperglycinuria, Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... ORPHA:86909
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Hyperactivity ORPHA:85288
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Alazami-Yuan Syndrome
Cryptorchidism, Broad hallux, Hyperactivity OMIM:617126
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum OMIM:184800
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hip dislocation, Small hand, Short foot OMIM:300434
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Histidinemia
Histidinuria, Hyperhistidinemia, Hyperactivity ORPHA:2157
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Clinodactyly of the 5th finger, Tapered finger, Long fingers OMIM:609425
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... OMIM:619338
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries ORPHA:275555
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Elevated circulating creatinine concentration, Short foot, Metaphyseal widenin... OMIM:614376
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Fraxe Intellectual Disability
Clinodactyly of the 5th finger, Hyperactivity ORPHA:100973
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Postaxial polydactyly, Hyperactivity OMIM:615824
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Mend Syndrome
Overlapping fingers, Cryptorchidism, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Hyperactiv... OMIM:300960
Mental Retardation, Autosomal Dominant 43
Tapered finger, Hyperactivity OMIM:616977
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Short metatarsal, Short phalanx of finger, Cone-shaped epiphysis, Short metacarpa... OMIM:614613
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Gait ataxia, Short foot, Sandal gap, Small hand, Hypospadias, Hyperactivity, Decr... OMIM:300354
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Dystonia ORPHA:79233
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Ataxia, Dystonia OMIM:612716
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Cryptorchidism, Attention deficit hyperactivity disorder, Long fingers OMIM:614294
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Finger clino... ORPHA:8
Dyggve-Melchior-Clausen Disease
Inability to walk, Genu valgum, Broad ribs, Hyperactivity, Difficulty walking, Abnormal pelvis bo... ORPHA:239
2Q23.1 Microdeletion Syndrome
Hip dysplasia, Cryptorchidism, Ataxia, Sandal gap, Hypoplasia of penis, Hyperactivity, Clinodacty... ORPHA:228402
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Gand Syndrome
Hyperactivity, Long toe, Long fingers OMIM:615074
Familial Infantile Myoclonic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure, Simple febrile seizure, Seizure, Bilateral t... ORPHA:352582
Phenylketonuria
Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, ... OMIM:261600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Hyperactivity OMIM:300624
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Waddling gait, Short l... OMIM:186500
Rubinstein-Taybi Syndrome 2
Hyperactivity, Syndactyly, Broad thumb, Broad hallux OMIM:613684
Clark-Baraitser Syndrome
Hyperactivity, Clinodactyly, Sandal gap OMIM:617752
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, 2-3 toe syndactyly, Clinodactyl... OMIM:616809
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder, Hy... ORPHA:352490
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Macroorchidism, Shuffling gait, Hyperactivity ORPHA:3077
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, 2-3 toe syndactyly, Hypogonadism, Hyperactivity, Gonadal dysgenesis, Clinodactyly... ORPHA:3306
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Increased level of gamma-aminobutyric acid in urine, Ataxia, Elevated circulating ... OMIM:271980
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Short foot, Sandal gap, Small hand, Decreased serum creatinine, Decreased HD... OMIM:618885
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Mental Retardation, Autosomal Recessive 61
Tapered finger, Hyperactivity OMIM:617773
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Hyperactivity ORPHA:85327
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Ck Syndrome
Hyperactivity, Long toe, Long fingers ORPHA:251383
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity OMIM:300143
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Seckel Syndrome 1
Cryptorchidism, Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Hypop... OMIM:210600
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Broad-based gait, Hyperactivity ORPHA:457260
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Sandal gap, Small hand, Clinodactyly, Short foot, Hyperactivity, Tapered finger OMIM:618089
Coffin-Siris Syndrome 7
Clinodactyly, Brachydactyly, Hyperactivity OMIM:618027
Mental Retardation, Autosomal Recessive 38
Hyperactivity, Unsteady gait, Sandal gap OMIM:615516
Stankiewicz-Isidor Syndrome
Cryptorchidism, Hyperactivity, Micropenis, 2-3 toe syndactyly, Short thumb, Hypospadias, Absent t... OMIM:617516
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Toe syndactyly, Down-sloping shoulders, Short foot, Sandal gap, Small ha... ORPHA:85293
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Neonatal hyperbilirubinemia, Hyperactivity, Hypogonadism, Clinodactyly of the 5th f... ORPHA:73272
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Gait ataxia, Microphallus, Scrotal hypoplasia, Hyperactivity, Micropenis OMIM:300486
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hypertriglyceridemia, Limb dystonia, Hyperactivity ORPHA:363400
16P12.1P12.3 Triplication Syndrome
Short 5th finger, Clinodactyly of the 4th finger, 2-3 toe syndactyly, Bilateral cryptorchidism, H... ORPHA:485405
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cryptorchidism, Unsteady gait, Progressive cerebellar ataxia, Hyperactivity ORPHA:485350
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Bilateral ton... OMIM:254780
13Q12.3 Microdeletion Syndrome
Hip dysplasia, Cryptorchidism, Camptodactyly, Hyperactivity ORPHA:412035
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
19P13.3 Microduplication Syndrome
Hip dysplasia, Hip subluxation, Unilateral cryptorchidism, Clinodactyly, Hyperactivity, Hip dislo... ORPHA:447980
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Sickle Cell Anemia
Pigment gallstones, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
19P13.12 Microdeletion Syndrome
Cryptorchidism, Finger syndactyly, Hyperlipidemia, Sandal gap, Toe clinodactyly, Hyperactivity, H... ORPHA:254346
Graves Disease, Susceptibility To, 1
Goiter, Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Broad-based gait, Hyperactivity OMIM:300958
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Decreased response to growth hormone stimuation test OMIM:615286
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Hyperactivity, Brachydactyly, Short palm OMIM:182290
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Chromosome 10Q26 Deletion Syndrome
Cryptorchidism, Toe syndactyly, Scrotal hypoplasia, Radial deviation of finger, Clinodactyly, Hyp... OMIM:609625
Chromosome 2Q37 Deletion Syndrome
Short toe, Short metatarsal, Short phalanx of finger, Short metacarpal, Hyperactivity OMIM:600430
Myoclonic-Astatic Epilepsy
Ataxia, Unsteady gait, Syndactyly, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:1942
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Premature ovarian insufficiency, Hyperactivity ORPHA:391307
Cri-Du-Chat Syndrome
Cryptorchidism, Short metatarsal, Difficulty walking, Metatarsus adductus, Syndactyly, Short meta... OMIM:123450
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Acute hyperammonemia, Hypertriglyceridemia, Hypo... ORPHA:247585
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Hyperactivity OMIM:252900
Lamb-Shaffer Syndrome
Hip dysplasia, Ataxia, Hyperactivity ORPHA:530983
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Hallux valgus, Ataxia, Hyperactivity OMIM:614104
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperactivity OMIM:609152
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hypoplasia of the uterus, Epididymal cyst, Hyperur... OMIM:137920
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Camptodactyly, Ataxia, Clinodactyly, Syndactyly, Hyperactivity ORPHA:369891
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Abnormality of long bone morphology, Hypouricemia, Elevated circu... ORPHA:411634
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Increased blood urea nitrogen, Elevated circulating creatinine concentration, E... ORPHA:49041
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Absent thumb, Hyperactivity OMIM:619239
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Bifid scrotum, Overlapping toe, Camptodactyly, Distally placed thumb, Penoscrotal... OMIM:619148
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Cryptorchidism, Gait disturbance, Hypospadias ORPHA:457485
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hypoplastic nipples, Cryptorchidism, Clinodactyly of the 5th finger, Hyperactivity OMIM:618505
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Hyperactivity OMIM:252920
Acrodysostosis With Multiple Hormone Resistance
Cryptorchidism, Hypocalcemia, Short metatarsal, Short phalanx of finger, Pseudohypoparathyroidism... ORPHA:280651
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Gait disturbance, Ataxia, Abnormal circ... ORPHA:139396
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Avascular necrosis of the capital femoral epiphysis, Elevated circulating creatinine concentration ORPHA:247691
Argininemia
Hyperargininemia, Spastic gait, Hyperactivity, Diaminoaciduria, Hyperammonemia OMIM:207800
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Hyperlysinemia
Hypoornithinemia, Hyperlysinemia, Cystinuria, Argininuria, Dysmetria, Hyperactivity, Hyperammonem... ORPHA:2203
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Ataxia, Hyperactivity ORPHA:760
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Broad distal phalanx of finger, Long toe, Hyperactivity, Hypospadias, Long fingers ORPHA:363686
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Hyperactivity OMIM:252930
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Camptodactyly, Hypoplastic iliac wing, Cutaneous finger syndactyly, Small hand, H... OMIM:235510
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Rocker bottom foot, Congenital finger flexion contractures, Gait disturbance, Hyp... ORPHA:363528
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Pancreatic cysts, Elevated circulating creatinine concentr... ORPHA:730
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Hyperactivity OMIM:252940
Mend Syndrome
Overlapping fingers, Cryptorchidism, Hand polydactyly, Overlapping toe, 2-3 toe syndactyly, Eleva... ORPHA:401973
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Hip subluxation, Epiphyseal stippling, Scrotal hypoplasia, Bicornuate uterus, Met... OMIM:270400
Glass Syndrome
Camptodactyly, Arachnodactyly, Broad-based gait, Hyperactivity OMIM:612313
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Bone Marrow Failure Syndrome 3
Cryptorchidism, Metaphyseal dysplasia, Congenital hip dislocation, Hyperactivity OMIM:617052
Distal Trisomy 17Q
Cryptorchidism, Genu valgum, Hand polydactyly, Overlapping toe, Hyperactivity, Arachnodactyly, Ha... ORPHA:3379
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Craniorachischisis
Bifid sternum ORPHA:63260
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Hyperactivity ORPHA:99819
Igg4-Related Kidney Disease
Prostatitis, Sialadenitis, Abnormality of the anterior pituitary, Elevated circulating creatinine... ORPHA:449395
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 2nd finger, Camptodactyly, Hypoplastic nipples, Clinodactyly, Hyper... ORPHA:261323
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Thyroid hyperplasia, Hyperactivity ORPHA:424
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Brain-Lung-Thyroid Syndrome
Dystonia, Elevated circulating thyroid-stimulating hormone concentration, Ataxia, Falls, Hyperact... ORPHA:209905
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Toe syndactyly, Breast hypoplasia, Polydactyly, Gait disturbance, Anterior pituit... ORPHA:464306
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hip dysplasia, Postaxial polydactyly, Broad hallux, Hyperactivity, Clinodactyly of the 5th finger... ORPHA:457284
Witteveen-Kolk Syndrome
Cryptorchidism, Attention deficit hyperactivity disorder, Microphallus, Abnormality of finger, To... OMIM:613406
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Overlapping toe OMIM:617478
Distal Monosomy 12Q
Overlapping toe, Short middle phalanx of finger, 2-3 toe syndactyly, Unilateral cryptorchidism, B... ORPHA:96149
Coffin-Lowry Syndrome
Bifid sternum, Drumstick terminal phalanges, Narrow iliac wing, Short metacarpal, Uterine prolaps... OMIM:303600
Monosomy 9Q22.3
Polydactyly, Abnormality of the ribs, Ovarian fibroma, Hyperactivity ORPHA:77301
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Overlapping toe, Camptodactyly, Clinodactyly, Tapered finger, Small hand, Short f... OMIM:309590
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Early Infantile Epileptic Encephalopathy
Dystonia, Episodic ataxia, Short finger, Hyperactivity, Broad finger, Micropenis, Precocious pube... ORPHA:1934
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Maternal Phenylketonuria
Clinodactyly, Brachydactyly, Bifid distal phalanx of the thumb, Hyperactivity ORPHA:2209
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Cryptorchidism, Genu valgum, Scrotal hypoplasia, Radial deviation of finger, Clinodactyly, Tapere... OMIM:309580
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Bifid uterus, Broad thumb, Flared iliac wing, Polydactyly, Radial deviation of th... OMIM:180849
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Tetrasomy 9P
Cryptorchidism, Oligospermia, Hypoplastic scapulae, Small hand, Missing ribs, Hyperactivity, Abse... ORPHA:3310
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500
Choreoacanthocytosis
Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inability to walk,... ORPHA:2388
Nephrotic Syndrome, Type 7
OMIM:615008

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.

Phenotype Allele Zygosity Sex Life Stage
Kidney - MPATH pathological process term membraneous glomerulonephritis Dgkeem1(IMPC)Tcp HOM Early adult

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 Dgke.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dgketm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dgketm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dgkeem1(IMPC)Tcp Exon Deletion Mice, Tissue

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