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Gene: Dgke MGI:1889276

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Gene Summary

Name:
diacylglycerol kinase, epsilon
Synonyms:
DAGK6

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Dgkeem1(IMPC)Tcp HOM Early adult 1.06×10-05
abnormal sternum morphology Dgkeem1(IMPC)Tcp HOM Early adult 0.00
decreased circulating creatinine level Dgkeem1(IMPC)Tcp HOM Early adult 6.27×10-05
abnormal testis morphology Dgkeem1(IMPC)Tcp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Gross Pathology and Tissue Collection

Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

15 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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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
Hypoalbuminemia 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 aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure... OMIM:615006
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Smith-Magenis syndrome
Hyperactivity, Brachydactyly, Self-mutilation, Motor stereotypy DECIPHER:8
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Fraxe Intellectual Disability
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Compulsive beh... ORPHA:100973
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, Hyperprolinemia,... OMIM:239500
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Bilatera... ORPHA:101046
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
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
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,... OMIM:607682
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febr... OMIM:605021
Glycine Encephalopathy 1
Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Morm Syndrome
Hyperactivity, Micropenis, Aggressive behavior ORPHA:75858
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria OMIM:234500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... OMIM:612736
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypergonadotropic h... OMIM:617872
2Q23.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Sandal gap, Hypoplasia of penis, Hyperactivity, Polyphagia, Short... ORPHA:228402
Phenylketonuria
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Maternal hyperphenylalaninemia, Atten... OMIM:261600
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Fragile X Syndrome
Congenital macroorchidism, Hyperactivity, Metacarpophalangeal joint hyperextensibility, Macroorch... OMIM:300624
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Short iliac bones, Broad long bone diaphyses, Acetabular spurs, Metaphyseal widening, Brachydacty... OMIM:614376
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hyperlysinemia, Type I
Argininuria, Hyperactivity, Hyperlysinemia, Hypoornithinemia, Ornithinuria, Hyperlysinuria, Homoc... OMIM:238700
Histidinemia
Hyperactivity, Hyperhistidinemia, Histidinuria ORPHA:2157
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Clinodactyly of the 5th finger, Hyperactivity, 2-3 toe syndactyly, Precocious... ORPHA:3306
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Intellectual Developmental Disorder, Autosomal Recessive 38
Sandal gap, Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
47,Xyy Syndrome
Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, Impulsivity, Cryptorchidism, Varicocele... ORPHA:8
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Hypospadias, Hyperactivity, Short metacarpal, Short phalanx of finger, Brachyda... OMIM:614613
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Sandal gap, Hypotriglyceridemia, Decreased serum creatin... OMIM:618885
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Bowing of the legs, Aminoaciduria OMIM:615605
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Cryptorchidism, Camptodactyly OMIM:608104
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism, Impulsivity OMIM:300143
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... OMIM:154230
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Broad hallux, Broad thumb OMIM:300406
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Hyperparathyroidism OMIM:620366
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Stankiewicz-Isidor Syndrome
Hypospadias, Hyperactivity, 2-3 toe syndactyly, Absent thumb, Short thumb, Shawl scrotum, Cryptor... OMIM:617516
Dyggve-Melchior-Clausen Disease
Genu valgum, Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Hypop... ORPHA:239
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries ORPHA:275555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Long toe, Elevated circulating long chain fatty acid concentration, Elevated circula... OMIM:608836
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Primary testicular failure, Decreased circulating apolip... ORPHA:85450
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypomagnesemia, Self-biting, Hypokalemia OMIM:618314
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Juvenile Nephropathic Cystinosis
Polydipsia, Abnormal long bone morphology, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia,... ORPHA:411634
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, V... ORPHA:49041
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration OMIM:266900
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Short long bone, Reduced haptoglobin level OMIM:301110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Renal Cysts And Diabetes Syndrome
Hypospadias, Hyperuricemia, Pancreatic hypoplasia, Bicornuate uterus, Atretic vas deferens, Pancr... OMIM:137920
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Avascular necrosis of the capital femoral epiphysis ORPHA:247691
Sickle Cell Anemia
Cholelithiasis, Finger dactylitis, Unconjugated hyperbilirubinemia, Elevated circulating creatini... ORPHA:232
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Hyperphenylalaninemia, Abnormal circulating neopt... OMIM:612716
Oligomeganephronia
Polydipsia, Elevated circulating creatinine concentration ORPHA:2260
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Hypomagnesemia 3, Renal
Polydipsia, Hypocalcemic seizures, Genu valgum, Increased circulating beta-C-terminal telopeptide... OMIM:248250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Elevated circulating creatinine concentration, Pituitary growth hormone cell ad... ORPHA:730
Familial Gestational Hyperthyroidism
Hyperactivity, Goiter, Agitation, Thyroid hyperplasia ORPHA:99819
Marburg Hemorrhagic Fever
Anorexia, Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyper... ORPHA:99826
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Elevated circulating creatinine concentration OMIM:617478
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Craniorachischisis
Bifid sternum ORPHA:63260
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Agitation, Hyperphosphatemia ORPHA:340
Igg4-Related Kidney Disease
Prostatitis, Elevated circulating C-reactive protein concentration, Sialadenitis, Decreased retin... ORPHA:449395
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Coffin-Lowry Syndrome
Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Short metacarpal, Uter... OMIM:303600
Biliary, Renal, Neurologic, And Skeletal Syndrome
Polydactyly, Hyperbilirubinemia, Anterior pituitary hypoplasia, Bile duct proliferation, Broad th... OMIM:619534
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-re... ORPHA:91500
Nephrotic Syndrome, Type 7
Hypoalbuminemia 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(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dgketm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dgketm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dgkeem1(IMPC)Tcp Exon Deletion Mice, Tissue

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