Gene Summary

Name:
diacylglycerol kinase kappa
Synonyms:
N/A

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 circulating HDL cholesterol level Dgkkem1(IMPC)Ics HEM   Early adult 7.76×10-05
decreased grip strength Dgkkem1(IMPC)Ics HEM   Early adult 4.20×10-06
increased circulating cholesterol level Dgkkem1(IMPC)Ics HEM   Early adult 5.02×10-06
abnormal locomotor behavior Dgkkem1(IMPC)Ics HEM   Early adult 7.45×10-05
increased startle reflex Dgkkem1(IMPC)Ics HEM   Early adult 2.16×10-09
increased circulating alkaline phosphatase level Dgkkem1(IMPC)Ics HEM   Early adult 3.45×10-05

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.

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Dgkk 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 Dgkk by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait OMIM:607250
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia, Ataxia, Steppage gait ORPHA:94124
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Ataxia, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Postural tremor, Head tremor, Elevated alpha-fetoprotein, Ataxia,... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Tremor, Limb ataxia, Ataxia, Hypoalb... OMIM:208920
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Gait ataxia, Hypertriglyceridemia, Dysmetria OMIM:606721
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Tremor, Acute hyperammonemia, Hypertriglyceridem... ORPHA:247585
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Hyperactivity OMIM:182290
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Laron Syndrome
Hypercholesterolemia ORPHA:633
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Cog4-Cdg
Hypercholesterolemia, Ataxia ORPHA:263501
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:79237
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Smith-Magenis Syndrome
Hypercholesterolemia, Gait disturbance, Hypertriglyceridemia, Attention deficit hyperactivity dis... ORPHA:819
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia ORPHA:2479
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin l... ORPHA:90674
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Lethargy, ... ORPHA:470
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Limb tremor, Oculogyric crisis, Torticollis, Exaggerated startle respons... OMIM:608643
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Gait disturbance, Increased serum beta-hexosaminidase, Laryn... ORPHA:845
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia ORPHA:79259
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia, Ataxia, Broad-based gait ORPHA:438216
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hyperaldosteronism, Hypokale... ORPHA:534
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Steinert Myotonic Dystrophy
Inability to walk, Hypercholesterolemia, Gait disturbance, Falls ORPHA:273
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Bicarbonaturia, Elevated materna... OMIM:309000
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Sandhoff Disease
Exaggerated startle response, Ataxia OMIM:268800
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Decreased serum iron, Exaggerated startle response, Broad-based gait ORPHA:438213

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 Dgkk

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 Dgkk.

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

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MGI Allele Allele Type Produced
Dgkktm106254(L1L2_Bact_P) Targeting vectors
Dgkkem1(IMPC)Ics Exdel Mice

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