Gene Summary

Name:
cytochrome c oxidase subunit 7C
Synonyms:
Cox7c1,  COXVIIc

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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

Download data as:  TSV  XLS

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

lacZ Expression

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)

Associated Images

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

Adult LacZ

LacZ Images Section

37 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

13 Images

Gross Morphology Embryo E12.5

Images

2 Images

MicroCT E14.5-E15.5

Embryo reconstruction

11 Images

Embryo LacZ

LacZ images wholemount

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

Gross Morphology Embryo E18.5

Images

2 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Electroretinography

Cone waveform (pdf format)

4 Images

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.

No human diseases associated to this gene by orthology or annotation.

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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