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 |
---|---|---|---|---|---|---|
prenatal lethality | Cox7ctm1b(KOMP)Mbp | HOM | E18.5 | 0.00 | ||
abnormal placenta size | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
embryonic growth retardation | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
pallor | 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 skin coloration | Cox7ctm1b(KOMP)Mbp | HOM | E15.5 | 0.00 | ||
abnormal embryo size | Cox7ctm1b(KOMP)Mbp | HOM | E12.5 | 0.00 | ||
preweaning lethality, complete penetrance | Cox7ctm1b(KOMP)Mbp | HOM | Early adult | 0.00 | ||
abnormal embryo size | Cox7ctm1b(KOMP)Mbp | HOM | E15.5 | 0.00 | ||
abnormal placenta size | Cox7ctm1b(KOMP)Mbp | HOM | E15.5 | 0.00 | ||
increased fasting circulating glucose level | Cox7ctm1b(KOMP)Mbp | HET | Early adult | 3.43×10-06 | ||
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 | 0.0% |
aorta | 0.0% |
brain | 0.0% |
brainstem | 0.0% |
brown adipose tissue | 0.0% |
cartilage tissue | 0.0% |
cerebellum | 0.0% |
cerebral cortex | 0.0% |
epididymis | Unavailable |
esophagus | 0.0% |
eye | 0.0% |
heart | 0.0% |
hippocampus | 0.0% |
hypothalamus | 0.0% |
kidney | 0.0% |
large intestine | 0.0% |
liver | 0.0% |
lower urinary tract | 0.0% |
lung | 0.0% |
lymph node | 0.0% |
mammary gland | 0.0% |
midbrain | 0.0% |
olfactory lobe | 0.0% |
ovary | 0.0% |
oviduct | 0.0% |
pancreas | 0.0% |
peripheral nervous system | 0.0% |
peyers patch | 0.0% |
pituitary gland | 0.0% |
prostate gland | 0.0% |
skeletal muscle | 0.0% |
skin | 0.0% |
small intestine | 0.0% |
spinal cord | 0.0% |
spleen | 0.0% |
stomach | 0.0% |
striatum | 0.0% |
submandibular gland | 0.0% |
testis | 0.0% |
thalamus | 0.0% |
thymus | 0.0% |
thyroid gland | 0.0% |
trachea | 0.0% |
urinary bladder | |
uterus | 0.0% |
vascular system | 0.0% |
vesicular gland | Unavailable |
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 | 0.0% |
dorsal root ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
eye | 0.0% |
footplate | 0.0% |
forebrain | 0.0% |
forelimb | 0.0% |
fronto-nasal process | Ambiguous |
handplate | 0.0% |
head | 0.0% |
heart | 0.0% |
hindbrain | 0.0% |
hindlimb | 0.0% |
liver | 0.0% |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
midbrain | 0.0% |
nose | Ambiguous |
oral cavity | 0.0% |
skin | 0.0% |
spinal cord | Ambiguous |
tail | 0.0% |
tail somite group | 0.0% |
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 | Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young | OMIM:613370 | |
Glycogen Storage Disease 0, Liver | Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia | OMIM:240600 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Hypopigmentation of the skin, Pallor, Short stature, Albinism | ORPHA:2786 | |
Diabetes Mellitus, Transient Neonatal, 1 | Transient neonatal diabetes mellitus, Hyperglycemia | OMIM:601410 | |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies | Glucose intolerance, Hyperglycemia | 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 | |
X-Linked Sideroblastic Anemia | Pallor, Hyperpigmentation of the skin | ORPHA:75563 | |
Diabetes Mellitus, Permanent Neonatal, 4 | Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia | OMIM:618858 | |
Diabetes Mellitus, Transient Neonatal, 3 | Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes | OMIM:610582 | |
Essential Fructosuria | Hyperglycemia | ORPHA:2056 | |
Maturity-Onset Diabetes Of The Young, Type 13 | Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes | OMIM:616329 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Dermatitis, Atopic | Dry skin, Pallor, Facial erythema | OMIM:603165 | |
Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Diabetes Mellitus, Permanent Neonatal, 1 | Type I diabetes mellitus, Hyperglycemia, 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 | Growth delay, Pallor | OMIM:613561 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Growth delay, Syndactyly, Short stature, Pallor | OMIM:615631 | |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive | Hyperglycemia | OMIM:618970 | |
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 | |
Cyclic Vomiting Syndrome | Growth delay, Pallor | OMIM:500007 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Growth delay, Cafe-au-lait spot, Pallor | OMIM:615234 | |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency | Hyperglycemia, Hyperinsulinemia | ORPHA:329249 | |
Fanconi Anemia, Complementation Group I | Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, Pallor, Intrauterine growth r... | OMIM:609053 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Short stature, Pallor | ORPHA:49827 | |
Type 1 Diabetes Mellitus | Hyperglycemia, Diabetes mellitus | OMIM:222100 | |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities | Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... | OMIM:262190 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Retinitis Pigmentosa 51 | Polydactyly, Pallor | OMIM:613464 | |
Congenital Heart Block | Intrauterine growth retardation, Pallor | ORPHA:60041 | |
Diabetes Mellitus, Permanent Neonatal, 3 | Type I diabetes mellitus, Hyperglycemia, Glycosuria | OMIM:618857 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Myopathic Ehlers-Danlos Syndrome | Tapered finger, Pallor, Talipes equinovarus, Congenital finger flexion contractures, Adducted thumb | ORPHA:536516 | |
Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
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 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Dravet Syndrome | Pallor, Tibial torsion | ORPHA:33069 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Short stature, Pallor | OMIM:611590 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Growth delay, Pallor, Delayed puberty | OMIM:600462 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Primary Myelofibrosis | Ecchymosis, Pallor, Petechiae, Purpura | ORPHA:824 | |
Myelofibrosis | Pallor, Purpura | OMIM:254450 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
Kcnq2-Related Epileptic Encephalopathy | Pallor, Facial erythema | ORPHA:439218 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Growth delay, Cafe-au-lait spot, Pallor | ORPHA:300298 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Dominant Beta-Thalassemia | Bowing of the long bones, Skin ulcer, Genu valgum, Growth delay, Pallor, Delayed puberty, Hyperpi... | ORPHA:231226 | |
Familial Renal Glucosuria | Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria | ORPHA:69076 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Mody | Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... | ORPHA:552 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
Fanconi Anemia, Complementation Group C | Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... | OMIM:227645 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Beta-Thalassemia Major | Bowing of the long bones, Skin ulcer, Genu valgum, Growth delay, Pallor, Delayed puberty, Hyperpi... | ORPHA:231214 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
Myopathy, Mitochondrial, And Ataxia | Growth delay, Short stature, Pallor | OMIM:617675 | |
Fanconi Anemia, Complementation Group E | Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... | OMIM:600901 | |
Congenital Dyserythropoietic Anemia Type Iii | Short stature, Pallor | ORPHA:98870 | |
Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
Senior-Loken Syndrome 8 | Polydactyly, Pallor | OMIM:616307 | |
Fanconi Anemia, Complementation Group A | Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Abnormality of skin pigme... | OMIM:227650 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
American Trypanosomiasis | Pallor | ORPHA:3386 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Hereditary Spherocytosis | Growth delay, Pallor, Skin ulcer | ORPHA:822 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Incontinentia Pigmenti | Abnormality of skin pigmentation, Erythema, Short stature, Pallor | OMIM:308300 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Sepsis In Premature Infants | Pallor, Petechiae, Purpura | ORPHA:90051 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Diamond-Blackfan Anemia 1 | Short stature, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of the... | OMIM:105650 | |
Fanconi Anemia, Complementation Group D2 | Anemic pallor, Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb... | OMIM:227646 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Waldenström Macroglobulinemia | Pallor, Purpura | ORPHA:33226 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Prolactinoma | Pallor, Delayed puberty | ORPHA:2965 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
Degcags Syndrome | Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Abnormality of s... | OMIM:619488 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Growth delay, Anemic pallor | ORPHA:329971 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
Fumarase Deficiency | Pallor | OMIM:606812 | |
Esophageal Atresia | Growth delay, Clinodactyly, Pallor | ORPHA:1199 | |
Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
Diamond-Blackfan Anemia | Short stature, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Growth delay, Pal... | ORPHA:124 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
Idiopathic Hypereosinophilic Syndrome | Swelling of proximal interphalangeal joints, Clubbing, Pallor | ORPHA:3260 | |
Autosomal Recessive Malignant Osteopetrosis | Growth delay, Abnormal metaphysis morphology, Pallor, Bowing of the long bones | ORPHA:667 | |
Histiocytoid Cardiomyopathy | Pallor | ORPHA:137675 | |
Tsh-Secreting Pituitary Adenoma | Pallor, Delayed puberty | ORPHA:91347 | |
Infection-Related Hemolytic Uremic Syndrome | Pallor | ORPHA:544482 | |
Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
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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