Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Cox8a MGI:105959

Gene Summary

Name:

cytochrome c oxidase subunit 8A

Synonyms:

COX8L, COX VIII-L

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased circulating phosphate level	Cox8a^{em1(IMPC)Marc}	HOM	Early adult	4.50×10^-05
decreased grip strength	Cox8a^{em1(IMPC)Marc}	HOM	Early adult	1.47×10^-08
increased circulating triglyceride level	Cox8a^{em1(IMPC)Marc}	HOM	Early adult	1.69×10^-11
hypoactivity	Cox8a^{em1(IMPC)Marc}	HOM	Early adult	3.13×10^-05
abnormal retina morphology	Cox8a^{em1(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.

Human diseases associated with Cox8a (1 diseases)
Human diseases predicted to be associated with Cox8a (271 diseases)

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	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
Cox8a^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Cox8a^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cox8a^{em1(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

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us