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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 grip strength	Cox8a^{em1(IMPC)Marc}	HOM	Early adult	1.47×10^-08
decreased circulating phosphate level	Cox8a^{em1(IMPC)Marc}	HOM	Early adult	4.50×10^-05
increased circulating triglyceride level	Cox8a^{em1(IMPC)Marc}	HOM	Early adult	1.69×10^-11
abnormal retina morphology	Cox8a^{em1(IMPC)Marc}	HOM	Early adult	5.37×10^-05
decreased locomotor activity	Cox8a^{em1(IMPC)Marc}	HOM	Early adult	3.13×10^-05

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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.

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 (259 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, Pigmentary retinopathy, Hyperglycinemia	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	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ...	OMIM:615558
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester...	OMIM:616516
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia	OMIM:615924
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Difficulty walking	OMIM:610717
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Linear Verrucous Nevus Syndrome	Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia	ORPHA:2611
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
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
Cystinosis	Retinopathy, Hypokalemia, Gait disturbance, Hypophosphatemia	ORPHA:213
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Waddli...	ORPHA:157215
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Difficulty walking, Hypophosphatemia	OMIM:600081
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho...	OMIM:241530
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Griscelli Syndrome Type 1	Retinopathy, Hyperlipidemia, Ataxia	ORPHA:79476
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Difficulty walking, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Hypocalcemic Vitamin D-Resistant Rickets	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:280356
Oncogenic Osteomalacia	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia	OMIM:613877
Vitamin D-Dependent Rickets, Type 2A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hypercalcemia, Hypophosphatemia	OMIM:156400
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Ataxia, Gait ataxia	ORPHA:363400
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Hereditary Fructose Intolerance	Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Hyperlipoproteinemia, Type I	Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Hypocalcemic Vitamin D-Dependent Rickets	Difficulty walking, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia	OMIM:608600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Chylomicron Retention Disease	Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia	ORPHA:71
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,...	OMIM:239000
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:98855
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase...	ORPHA:261
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase	OMIM:604484
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus	OMIM:211900
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia, Gait disturbance	ORPHA:819
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking	ORPHA:99845
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia	OMIM:604367
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Fibrous Dysplasia Of Bone	Antalgic gait, Hypercalcemia, Increased circulating cortisol level, Difficulty walking, Hypophosp...	ORPHA:249
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Ataxia	OMIM:617575
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Dent Disease 1	Hypophosphatemia	OMIM:300009
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb...	OMIM:603553
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Cystinosis, Nephropathic	Hyponatremia, Retinal pigment epithelial mottling, Reduced blood urea nitrogen, Hypophosphatemia,...	OMIM:219800
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration	OMIM:277700
Pearson Syndrome	Ataxia, Hypomagnesemia, Hypophosphatemia, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Stea...	ORPHA:699
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Mccune-Albright Syndrome	Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia	ORPHA:562
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pigmentar...	OMIM:203800
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia	ORPHA:329249
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy	OMIM:229600
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Glycogen Storage Disease Ixc	Hypertriglyceridemia	OMIM:613027
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia	OMIM:615381
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia	ORPHA:2089
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Ataxia, Difficulty walking, Abnormal circulating creatine kinase concentration	ORPHA:98907
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia	ORPHA:79083
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Hypokalemia, Hyperaldosteronism, Hypophosph...	ORPHA:534
Raine Syndrome	Hypophosphatemia	OMIM:259775
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia	ORPHA:2348
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Lipemia re...	ORPHA:444490
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia	ORPHA:66628
Glycogen Storage Disease Iii	Hyperlipidemia, Elevated circulating creatine kinase concentration	OMIM:232400
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Seckel Syndrome 10	Retinal detachment, Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:617253
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia	ORPHA:179494
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia	ORPHA:428
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Ataxia, Increased circul...	ORPHA:167
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Hypocalcemia, Hypophosphatemia	ORPHA:667
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co...	OMIM:615980
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:93325
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia	ORPHA:158048
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:613327
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Optic atrophy	OMIM:101800
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Methanol Poisoning	Hyperlipidemia, Abnormal optic nerve morphology	ORPHA:31825
Glycerol Kinase Deficiency	Lethargy, Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hypertriglyceridemia	ORPHA:79086
Pseudohypoparathyroidism Type 1A	Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic s...	ORPHA:79443
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:280365
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Hyperlipidemia, Increased ...	ORPHA:77293
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Macular atrophy	OMIM:619418
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Dysmetria, Gait ataxia, Pigmentary retinopathy, Dysdiadochokinesis, Hyperch...	OMIM:606721
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Difficulty walking, Abnormal circulating creatine kinase concentration	ORPHA:98908
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy	OMIM:118450
Familial Multiple Lipomatosis	Chorioretinitis, Hyperlipidemia	ORPHA:199276
Cholestasis-Lymphedema Syndrome	Hyperlipidemia	ORPHA:1414
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Hypertriglyceridemia, Retinal degeneration	ORPHA:79474
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:269700
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Optic disc hypoplasia, Ataxia, Optic atrophy, Pigmentary retinopathy, Trunc...	ORPHA:3455
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis	OMIM:232200
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia	OMIM:608594
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Truncal ataxia	OMIM:264090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio...	ORPHA:189427
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis	OMIM:232220
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Glycogen Storage Disease Ic	Xanthelasma, Hyperlipidemia, Hyperuricemia	OMIM:232240
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Hypertriglyceridemia, Ataxia, Retinal pigment epithel...	ORPHA:64
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia	OMIM:619059
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia	OMIM:241080
Woodhouse-Sakati Syndrome	Choreoathetosis, Hyperlipidemia	ORPHA:3464
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665

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.

MGI Allele	Allele Type	Produced
Cox8a^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Cox8a^{em1(IMPC)Marc}	Deletion	Mice
Cox8a^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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