Gene Summary

Name:
cytochrome c oxidase subunit 8A
Synonyms:
COX8L,  COX VIII-L

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating phosphate level Cox8aem1(IMPC)Marc HOM Early adult 4.50×10-05
decreased grip strength Cox8aem1(IMPC)Marc HOM Early adult 1.47×10-08
increased circulating triglyceride level Cox8aem1(IMPC)Marc HOM Early adult 1.69×10-11
hypoactivity Cox8aem1(IMPC)Marc HOM   Early adult 3.13×10-05
abnormal retina morphology Cox8aem1(IMPC)Marc HOM   Early adult 5.37×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cox8a 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 Cox8a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Hyperglycinemia, Pigmentary retinopathy OMIM:619059

The table below shows human diseases predicted to be associated to Cox8a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Gait disturbance, Hypertriglyceridemia, Elevated circula... OMIM:616516
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia OMIM:615924
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Hypertriglyceridemia ORPHA:436182
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94090
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... OMIM:615703
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hypertriglyceridemia OMIM:615238
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce... OMIM:277460
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Difficulty walking, Hypertriglyceridemia OMIM:610717
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Hypophosphatemia, Retinopathy ORPHA:2611
Lipodystrophy, Familial Partial, Type 7
Dysmetria, Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy, Gait ataxia OMIM:606721
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Ataxia, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal ... ORPHA:157215
Cystinosis
Gait disturbance, Hypophosphatemia, Retinopathy, Hypokalemia ORPHA:213
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprote... OMIM:207750
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Paget Disease Of Bone 5, Juvenile-Onset
Retinal degeneration, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Hyperphosphatemia, Macular s... OMIM:239000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Limb dystonia ORPHA:363400
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Glycerol Kinase Deficiency
Hypertriglyceridemia, Lethargy OMIM:307030
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Smith-Magenis Syndrome
Hypercholesterolemia, Hyperactivity, Retinal detachment, Hypertriglyceridemia OMIM:182290
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Griscelli Syndrome Type 1
Ataxia, Retinopathy, Hyperlipidemia ORPHA:79476
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Difficulty walking OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Difficulty walking, Hypophosphatemic rickets OMIM:241530
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures OMIM:264700
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures OMIM:277440
Oncogenic Osteomalacia
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Waddling gait, Hypophosphatemia OMIM:156400
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia OMIM:127000
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:36913
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Hereditary Fructose Intolerance
Hypermagnesemia, Lethargy, Hypophosphatemia, Hyperuricemia ORPHA:469
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lipemia retinalis, Lactescent serum, Hypercholesterolemia, Increased circulating ... OMIM:238600
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia OMIM:603471
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98855
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Calcinosis, Hypophosphatemia OMIM:239200
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus OMIM:211900
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Nephrotic Syndrome, Type 14
Ataxia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94089
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Pigmentary retinopathy ORPHA:411629
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia OMIM:604367
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:261
Smith-Magenis Syndrome
Gait disturbance, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Attention defic... ORPHA:819
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Fibrous Dysplasia Of Bone
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Antalgic gait, Difficulty ... ORPHA:249
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Opsismodysplasia
Hypophosphatemia OMIM:258480
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:435660
Dent Disease 1
Hypophosphatemia OMIM:300009
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... ORPHA:3337
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia, Lethargy OMIM:229600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Pearson Syndrome
Hypokalemia, Hypophosphatemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Ataxia, Steatorrhea... ORPHA:699
Mccune-Albright Syndrome
Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia ORPHA:562
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Autosomal Dominant Hypocalcemia
Optic atrophy, Writer's cramp, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia, Pigmentary retinopa... OMIM:203800
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia OMIM:615381
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:278000
Raine Syndrome
Hypophosphatemia OMIM:259775
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Chorioretinal dysplasia, Hypophosphatemia, Hypercholesterolemia, Hyper... ORPHA:534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Familial Chylomicronemia Syndrome
Hyperlipidemia, Hypertriglyceridemia, Lipemia retinalis, Increased circulating chylomicron concen... ORPHA:444490
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Abnormal circulating creatine kinase concentration, Difficulty walking, Hypertriglyceridemia ORPHA:98907
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Lethargy ORPHA:2089
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Chédiak-Higashi Syndrome
Hypoproteinemia, Abnormality of retinal pigmentation, Hyponatremia, Gait disturbance, Increased c... ORPHA:167
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Hypophosphatemia, Hypocalcemia ORPHA:667
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Hypocalcemic tetany, Hypocalcemic seizures, Papilledema, Hyperphosphatemia ORPHA:93325
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79240
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... ORPHA:470
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperph... ORPHA:79444
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Seckel Syndrome 10
Retinal detachment, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:617253
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:613327
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hyperlipidemia, Cherry red spot of the macula, Increased... ORPHA:77293
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Ataxia, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia OMIM:101800
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hypertriglyceridemia ORPHA:79086
Methanol Poisoning
Abnormality of the optic nerve, Hyperlipidemia ORPHA:31825
Microtriplication 11Q24.1
Hyperlipidemia ORPHA:289522
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperph... ORPHA:79443
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:280365
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Steatorrhea, Hypertriglyceridemia ORPHA:275761
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Ataxia, Hypocalcemia, Hyperphos... ORPHA:466650
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... ORPHA:90041
H Syndrome
Hypertriglyceridemia ORPHA:168569
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Macular atrophy, Hypertriglyceridemia OMIM:619418
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Classical-Like Ehlers-Danlos Syndrome Type 2
Hypertriglyceridemia ORPHA:536532
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia ORPHA:79259
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy OMIM:118450
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Hyperphosphatemia, Hypocalcemia ORPHA:280651
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Difficulty walking, Hypertriglyceridemia ORPHA:98908
Familial Multiple Lipomatosis
Hyperlipidemia, Chorioretinitis ORPHA:199276
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Hypokalemia OMIM:619573
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
19P13.12 Microdeletion Syndrome
Hyperactivity, Hyperlipidemia ORPHA:254346
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Truncal ataxia OMIM:264090
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, H... OMIM:256040
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:619127
Glycogen Storage Disease Ia
Xanthelasma, Hyperlipidemia, Lipemia retinalis, Hyperuricemia OMIM:232200
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Optic disc hypoplasia, Ataxia, Hypertriglyceridemia, Truncal ataxia, Pigmentary re... ORPHA:3455
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration, Hypertriglyceridemia ORPHA:79474
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:157
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia OMIM:269700
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Lipemia retinalis, Hyperuricemia OMIM:232220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:2442
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Paradoxical increased c... ORPHA:189427
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:228308
Primary Lipodystrophy
Hyperlipidemia ORPHA:90970
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia ORPHA:1830
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Hyperlipidemia, Paradoxical increased cortisol secretion on... ORPHA:189439
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Hyperlipidemia ORPHA:567983
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Woodhouse-Sakati Syndrome
Dystonia, Hyperlipidemia OMIM:241080
Glycogen Storage Disease Ic
Xanthelasma, Hyperlipidemia, Hyperuricemia OMIM:232240
Alström Syndrome
Optic disc pallor, Hyperlipidemia, Drusen, Retinal dystrophy, Retinal pigment epithelial atrophy,... ORPHA:64
Fabry Disease
Abnormal circulating lipid concentration, Optic atrophy, Hyperlipidemia ORPHA:324
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Hyperglycinemia, Pigmentary retinopathy OMIM:619059
Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia ORPHA:565612
Woodhouse-Sakati Syndrome
Dystonia, Hyperlipidemia ORPHA:3464
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Optic neuropathy, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Turner Syndrome
Attention deficit hyperactivity disorder, Hyperlipidemia ORPHA:881
Mosaic Monosomy X
Attention deficit hyperactivity disorder, Hyperlipidemia ORPHA:99228
Monosomy X
Attention deficit hyperactivity disorder, Hyperlipidemia ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Attention deficit hyperactivity disorder, Hyperlipidemia ORPHA:99413

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 Cox8a

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 Cox8a.

No publications found that use IMPC mice or data for Cox8a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Cox8atm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Cox8atm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cox8aem1(IMPC)Marc Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter