Gene: Cox7c MGI:103226
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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 |
---|---|---|---|---|---|---|
abnormal placenta size | Cox7ctm1b(KOMP)Mbp | HOM | E15.5 | 0.00 | ||
embryonic growth retardation | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
abnormal embryo size | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
abnormal placenta development | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
abnormal limb bud morphology | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
abnormal embryo size | Cox7ctm1b(KOMP)Mbp | HOM | E15.5 | 0.00 | ||
pallor | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
increased fasting circulating glucose level | Cox7ctm1b(KOMP)Mbp | HET | Early adult | 1.04×10-05 | ||
preweaning lethality, complete penetrance | Cox7ctm1b(KOMP)Mbp | HOM | Early adult | 0.00 | ||
prenatal lethality | Cox7ctm1b(KOMP)Mbp | HOM | E18.5 | 0.00 | ||
abnormal skin coloration | Cox7ctm1b(KOMP)Mbp | HOM | E15.5 | 0.00 | ||
abnormal placenta size | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
abnormal placenta morphology | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Adrenal gland | Section images | heterozygote | 100% (2 of 2) |
Aorta | Section images | heterozygote | 100% (2 of 2) |
Brain | Section images | heterozygote | 100% (2 of 2) |
Brainstem | Section images | heterozygote | 100% (2 of 2) |
Cartilage tissue | Section images | heterozygote | 100% (2 of 2) |
Cerebellum | Section images | heterozygote | 100% (2 of 2) |
Cerebral cortex | Section images | heterozygote | 100% (2 of 2) |
Epididymis | Section images | heterozygote | 50% (1 of 2) |
Esophagus | Section images | heterozygote | 100% (2 of 2) |
Eye | Section images | heterozygote | 100% (2 of 2) |
Heart | Section images | heterozygote | 100% (2 of 2) |
Hippocampus | Section images | heterozygote | 100% (2 of 2) |
Hypothalamus | Section images | heterozygote | 100% (2 of 2) |
Kidney | Section images | heterozygote | 100% (2 of 2) |
Large intestine | Section images | heterozygote | 100% (2 of 2) |
Liver | Section images | heterozygote | 100% (2 of 2) |
Lung | Section images | heterozygote | 100% (2 of 2) |
Midbrain | Section images | heterozygote | 100% (2 of 2) |
Olfactory lobe | Section images | heterozygote | 100% (2 of 2) |
Ovary | Section images | heterozygote | 50% (1 of 2) |
Oviduct | Section images | heterozygote | 50% (1 of 2) |
Pancreas | Section images | heterozygote | 100% (2 of 2) |
Peripheral nervous system | Section images | heterozygote | 100% (2 of 2) |
Pituitary gland | Section images | heterozygote | 50% (1 of 2) |
Skin | Section images | heterozygote | 100% (2 of 2) |
Small intestine | Section images | heterozygote | 100% (2 of 2) |
Spinal cord | Section images | heterozygote | 100% (2 of 2) |
Stomach | Section images | heterozygote | 100% (2 of 2) |
Submandibular gland | Section images | heterozygote | 100% (2 of 2) |
Testis | Section images | heterozygote | 50% (1 of 2) |
Thalamus | Section images | heterozygote | 100% (2 of 2) |
Thymus | Section images | heterozygote | 100% (2 of 2) |
Thyroid gland | Section images | heterozygote | 50% (1 of 2) |
Trachea | Section images | heterozygote | 100% (2 of 2) |
Urinary bladder | Section images | heterozygote | 100% (2 of 2) |
Uterus | Section images | heterozygote | 50% (1 of 2) |
Brown adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
Lower urinary tract | N/A | heterozygote | Not available |
Lymph node | N/A | heterozygote | 0.0% (0 of 2) |
Mammary gland | N/A | heterozygote | 0.0% (0 of 2) |
Peyer's patch | N/A | heterozygote | Not available |
Prostate gland | N/A | heterozygote | Not available |
Skeletal muscle | N/A | heterozygote | 0.0% (0 of 2) |
Spleen | N/A | heterozygote | 0.0% (0 of 2) |
Striatum | N/A | heterozygote | Not available |
Vascular system | N/A | heterozygote | 100% (2 of 2) |
Vesicular gland | N/A | heterozygote | Not available |
White adipose tissue | N/A | heterozygote | 0.0% (0 of 2) |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Embryo | N/A | heterozygote | 100% (2 of 2) |
Embryo | N/A | homozygote | Ambiguous |
Brain | N/A | heterozygote | 100% (2 of 2) |
Brain | N/A | homozygote | Ambiguous |
Dorsal root ganglion | N/A | heterozygote | Ambiguous |
N/A | Ambiguous | ||
Ear | N/A | heterozygote | Ambiguous |
Ear | N/A | homozygote | Ambiguous |
Eye | N/A | heterozygote | 100% (2 of 2) |
Eye | N/A | homozygote | Ambiguous |
Footplate | N/A | heterozygote | 50% (1 of 2) |
Footplate | N/A | homozygote | Ambiguous |
Forebrain | N/A | heterozygote | 100% (2 of 2) |
Forebrain | N/A | homozygote | Ambiguous |
Forelimb | N/A | heterozygote | 100% (2 of 2) |
Forelimb | N/A | homozygote | Ambiguous |
Fronto-nasal process | N/A | heterozygote | Ambiguous |
N/A | Ambiguous | ||
Handplate | N/A | heterozygote | 50% (1 of 2) |
Handplate | N/A | homozygote | Ambiguous |
Head | N/A | heterozygote | 100% (2 of 2) |
Head | N/A | homozygote | Ambiguous |
Heart | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | homozygote | Ambiguous |
Hindbrain | N/A | heterozygote | 100% (2 of 2) |
Hindbrain | N/A | homozygote | Ambiguous |
Hindlimb | N/A | heterozygote | 100% (2 of 2) |
Hindlimb | N/A | homozygote | Ambiguous |
Liver | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | homozygote | Ambiguous |
Lung | N/A | heterozygote | Ambiguous |
Lung | N/A | homozygote | Ambiguous |
Mandibular process | N/A | heterozygote | 100% (2 of 2) |
Mandibular process | N/A | homozygote | Ambiguous |
Maxillary process | N/A | heterozygote | 100% (2 of 2) |
Maxillary process | N/A | homozygote | Ambiguous |
Midbrain | N/A | heterozygote | 100% (2 of 2) |
Midbrain | N/A | homozygote | Ambiguous |
Nose | N/A | heterozygote | 100% (1 of 1) |
N/A | Ambiguous | ||
Oral cavity | N/A | heterozygote | 50% (1 of 2) |
Oral cavity | N/A | homozygote | Ambiguous |
Skin | N/A | heterozygote | 100% (2 of 2) |
Skin | N/A | homozygote | Ambiguous |
Spinal cord | N/A | heterozygote | 100% (1 of 1) |
N/A | Ambiguous | ||
Tail somite | N/A | heterozygote | 50% (1 of 2) |
Tail somite | N/A | homozygote | Ambiguous |
Tail | N/A | heterozygote | 50% (1 of 2) |
Tail | N/A | homozygote | Ambiguous |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|---|
adrenal gland | 0.67% (4 of 598) |
aorta | 0.17% (1 of 598) |
brain | 0.84% (5 of 598) |
brainstem | 0.33% (2 of 598) |
brown adipose tissue | 0.0% |
cartilage tissue | 0.17% (1 of 598) |
cerebellum | 0.5% (3 of 598) |
cerebral cortex | 0.33% (2 of 598) |
epididymis | 14.29% (21 of 147) |
esophagus | 1.66% (7 of 422) |
eye | 0.0% |
heart | 0.33% (2 of 598) |
hippocampus | 0.5% (3 of 598) |
hypothalamus | 0.33% (2 of 598) |
kidney | 4.52% (27 of 598) |
large intestine | 5.35% (32 of 598) |
liver | 0.0% |
lower urinary tract | 0.17% (1 of 598) |
lung | 0.33% (2 of 598) |
lymph node | 0.17% (1 of 598) |
mammary gland | 0.0% |
midbrain | 0.0% |
olfactory lobe | 0.33% (2 of 598) |
ovary | 0.17% (1 of 598) |
oviduct | 0.0% |
pancreas | 0.84% (5 of 598) |
peripheral nervous system | 0.33% (2 of 598) |
peyers patch | 0.0% |
pituitary gland | 0.17% (1 of 598) |
prostate gland | 2.17% (13 of 598) |
skeletal muscle | 0.0% |
skin | 0.17% (1 of 598) |
small intestine | 5.35% (32 of 598) |
spinal cord | 0.5% (3 of 598) |
spleen | 0.5% (3 of 598) |
stomach | 3.68% (22 of 598) |
striatum | 0.5% (3 of 598) |
submandibular gland | 1.38% (2 of 145) |
testis | 1% (6 of 598) |
thalamus | 0.0% |
thymus | 0.17% (1 of 598) |
thyroid gland | 3.01% (18 of 598) |
trachea | 0.5% (3 of 598) |
urinary bladder | 0.0% |
uterus | 0.33% (2 of 598) |
vascular system | 0.0% |
vesicular gland | 0.0% |
white adipose tissue | 0.0% |
Background staining occurs in wild type mice and embryos at an incidental rate.
Background staining occurs in wild type embryos at a measurable rate.
Anatomy | Background staining in controls(WT) |
---|---|
brain | 1.17% (6 of 511) |
dorsal root ganglion | 1.67% (1 of 60) |
ear | 0.2% (1 of 511) |
embryo | 0.39% (2 of 512) |
eye | 0.2% (1 of 511) |
footplate | 0.2% (1 of 511) |
forebrain | 0.2% (1 of 511) |
forelimb | 0.2% (1 of 511) |
fronto-nasal process | 1.64% (1 of 61) |
handplate | 0.2% (1 of 511) |
head | 0.98% (5 of 511) |
heart | 0.2% (1 of 511) |
hindbrain | 1.17% (6 of 511) |
hindlimb | 0.2% (1 of 511) |
liver | 0.2% (1 of 506) |
lung | 0.2% (1 of 506) |
mandibular process | 0.2% (1 of 511) |
maxillary process | 0.2% (1 of 511) |
midbrain | 0.2% (1 of 511) |
nose | 1.28% (1 of 78) |
oral cavity | 0.2% (1 of 506) |
skin | 0.2% (1 of 511) |
spinal cord | 1.39% (1 of 72) |
tail | 0.2% (1 of 511) |
tail somite group | 0.2% (1 of 511) |
Human diseases caused by Cox7c 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 predicted to be associated to Cox7c by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Maturity-Onset Diabetes Of The Young, Type 3 | Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young | OMIM:600496 | |
Hyperproinsulinemia | Hyperglycemia, Hyperinsulinemia | OMIM:616214 | |
Maturity-Onset Diabetes Of The Young, Type 10 | Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young | OMIM:613370 | |
Glycogen Storage Disease 0, Liver | Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia | OMIM:240600 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Short stature, Hypopigmentation of the skin, Albinism, Pallor | ORPHA:2786 | |
Diabetes Mellitus, Transient Neonatal, 1 | Hyperglycemia, Transient neonatal diabetes mellitus | OMIM:601410 | |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies | Hyperglycemia, Glucose intolerance | OMIM:307500 | |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
Diabetes Mellitus, Permanent Neonatal, 4 | Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis | OMIM:618858 | |
X-Linked Sideroblastic Anemia | Hyperpigmentation of the skin, Pallor | ORPHA:75563 | |
Diabetes Mellitus, Transient Neonatal, 3 | Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus | OMIM:610582 | |
Essential Fructosuria | Hyperglycemia | ORPHA:2056 | |
Maturity-Onset Diabetes Of The Young, Type 13 | Diabetes mellitus, Maternal diabetes, Hyperglycemia, Maturity-onset diabetes of the young | OMIM:616329 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Dermatitis, Atopic | Dry skin, Facial erythema, Pallor | OMIM:603165 | |
Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
Autoimmune Hemolytic Anemia, Cold Type | Pallor | ORPHA:228312 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Diabetes Mellitus, Permanent Neonatal, 1 | Diabetes mellitus, Hyperglycemia, Type I diabetes mellitus | OMIM:606176 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction | Hyperglycemia, Maturity-onset diabetes of the young | OMIM:609812 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Pallor, Growth delay | OMIM:613561 | |
Transient Neonatal Diabetes Mellitus | Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsulinemia, Maturity... | ORPHA:99886 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Short stature, Pallor, Growth delay | OMIM:615631 | |
Cyclic Vomiting Syndrome | Pallor, Growth delay | OMIM:500007 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Short stature, Pallor | ORPHA:49827 | |
Type 1 Diabetes Mellitus | Diabetes mellitus, Hyperglycemia | OMIM:222100 | |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive | Hyperglycemia | OMIM:618970 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Cafe-au-lait spot, Pallor, Growth delay | OMIM:615234 | |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities | Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... | OMIM:262190 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency | Hyperglycemia, Hyperinsulinemia | ORPHA:329249 | |
Fanconi Anemia, Complementation Group I | Short stature, Cafe-au-lait spot, Intrauterine growth retardation, Pallor | OMIM:609053 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
Diabetes Mellitus, Permanent Neonatal, 3 | Hyperglycemia, Type I diabetes mellitus, Glycosuria | OMIM:618857 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Pallor | ORPHA:276575 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Pallor | ORPHA:276580 | |
Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Short stature, Pallor | OMIM:611590 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Delayed puberty, Pallor, Growth delay | OMIM:600462 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Dravet Syndrome | Pallor | ORPHA:33069 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
Myelofibrosis | Purpura, Pallor | OMIM:254450 | |
Primary Myelofibrosis | Purpura, Pallor, Petechiae, Ecchymosis | ORPHA:824 | |
Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Kcnq2-Related Epileptic Encephalopathy | Facial erythema, Pallor | ORPHA:439218 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Cafe-au-lait spot, Pallor, Growth delay | ORPHA:300298 | |
Lipodystrophy, Familial Partial, Type 3 | Maternal diabetes, Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... | OMIM:604367 | |
Familial Renal Glucosuria | Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia, Glycosuria | ORPHA:69076 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Mody | Neonatal hypoglycemia, Glycosuria, Abnormal oral glucose tolerance, Hyperglycemia, Transient neon... | ORPHA:552 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
Autoimmune Hemolytic Anemia | Pallor | ORPHA:98375 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Dominant Beta-Thalassemia | Delayed puberty, Hyperpigmentation of the skin, Growth delay, Pallor, Skin ulcer | ORPHA:231226 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
Congenital Dyserythropoietic Anemia Type Iii | Short stature, Pallor | ORPHA:98870 | |
Myopathy, Mitochondrial, And Ataxia | Short stature, Pallor, Growth delay | OMIM:617675 | |
Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
American Trypanosomiasis | Pallor | ORPHA:3386 | |
Beta-Thalassemia Major | Delayed puberty, Hyperpigmentation of the skin, Growth delay, Pallor, Skin ulcer | ORPHA:231214 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Hereditary Spherocytosis | Pallor, Skin ulcer, Growth delay | ORPHA:822 | |
Fanconi Anemia, Complementation Group C | Anemic pallor, Cafe-au-lait spot, Short stature, Intrauterine growth retardation, Hyperpigmentati... | OMIM:227645 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Incontinentia Pigmenti | Short stature, Erythema, Pallor, Abnormality of skin pigmentation | OMIM:308300 | |
Fanconi Anemia, Complementation Group E | Cafe-au-lait spot, Hyperpigmentation of the skin, Anemic pallor, Short stature | OMIM:600901 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Sepsis In Premature Infants | Purpura, Pallor, Petechiae | ORPHA:90051 | |
Fanconi Anemia, Complementation Group A | Cafe-au-lait spot, Anemic pallor, Short stature, Abnormality of skin pigmentation | OMIM:227650 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Rare Circulatory System Disease | Pallor | ORPHA:98028 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Waldenström Macroglobulinemia | Purpura, Pallor | ORPHA:33226 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Prolactinoma | Delayed puberty, Pallor | ORPHA:2965 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Diamond-Blackfan Anemia 1 | Short stature, Spina bifida occulta, Pallor, Intrauterine growth retardation | OMIM:105650 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor, Growth delay | ORPHA:329971 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Fumarase Deficiency | Pallor | OMIM:606812 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
Fanconi Anemia, Complementation Group D2 | Cafe-au-lait spot, Anemic pallor, Short stature, Abnormality of skin pigmentation | OMIM:227646 | |
Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
Degcags Syndrome | Hypopigmentation of the skin, Intrauterine growth retardation, Pallor, Abnormality of skin pigmen... | OMIM:619488 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
Esophageal Atresia | Pallor, Growth delay | ORPHA:1199 | |
Abdominal Obesity-Metabolic Syndrome 3 | Hyperglycemia, Type II diabetes mellitus | OMIM:615812 | |
Histiocytoid Cardiomyopathy | Pallor | ORPHA:137675 | |
Tsh-Secreting Pituitary Adenoma | Delayed puberty, Pallor | ORPHA:91347 | |
Idiopathic Hypereosinophilic Syndrome | Pallor | ORPHA:3260 | |
Diamond-Blackfan Anemia | Short stature, Pallor, Growth delay | ORPHA:124 | |
Autosomal Recessive Malignant Osteopetrosis | Pallor, Growth delay | ORPHA:667 | |
Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
Infection-Related Hemolytic Uremic Syndrome | Pallor | ORPHA:544482 | |
Von Hippel-Lindau Disease | Pallor | ORPHA:892 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Pallor | OMIM:253280 | |
Goodpasture Syndrome | Pallor | OMIM:233450 | |
Congenital Total Pulmonary Venous Return Anomaly | Pallor | ORPHA:99125 |
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 Cox7c
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 Cox7c.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Pitx2 maintains mitochondrial function during regeneration to prevent myocardial fat deposition. | Development (Cambridge, England) (September 2018) | Cox7ctm1b(KOMP)Mbp | 30143541 |
Order Mouse and ES Cells
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MGI Allele | Allele Type | Produced |
---|---|---|
Cox7ctm1a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Cox7ctm1b(KOMP)Mbp | Reporter-tagged deletion allele (with selection cassette) | Mice |
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