Gene Summary

Name:
cytochrome c oxidase subunit 5B
Synonyms:
N/A

IMPC Data Collections

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
unresponsive to tactile stimuli Cox5btm2b(EUCOMM)Hmgu HET E18.5 0.00
pale liver Cox5btm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal embryonic autopod plate morphology Cox5btm2b(EUCOMM)Hmgu HOM E12.5 0.00
abnormal liver size Cox5btm2b(EUCOMM)Hmgu HOM E12.5 0.00
preweaning lethality, complete penetrance Cox5btm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal skin coloration Cox5btm2b(EUCOMM)Hmgu HET Early adult 2.47×10-07
prenatal lethality prior to heart atrial septation Cox5btm2b(EUCOMM)Hmgu HOM   E15.5 0.00
pallor Cox5btm2b(EUCOMM)Hmgu HOM E12.5 0.00

Download data as:  TSV  XLS

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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
Prostate gland  Wholemount images heterozygote Not available
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
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
Heart atrium N/A heterozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Femur pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart ventricle N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Humerus pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Inner ear N/A heterozygote 0.0% (0 of 2)
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Notochord N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Outflow tract N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
Pharynx N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 2)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 2)
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
vascular system 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)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
femur pre-cartilage condensation 1.82% (1 of 55)
footplate 0.2% (1 of 508)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
intestine 1.72% (1 of 58)
liver 0.2% (1 of 503)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
mesonephros of female 1.82% (1 of 55)
mesonephros of male 1.82% (1 of 55)
metanephros 1.82% (1 of 55)
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pancreas 1.82% (1 of 55)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
stomach 1.82% (1 of 55)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
thoracic vertebral cartilage condensation 1.82% (1 of 55)
tongue 1.82% (1 of 55)
trachea 1.69% (1 of 59)
trunk mesenchyme 1.67% (1 of 60)
umbilical artery embryonic part 1.67% (1 of 60)
umbilical vein embryonic part 1.67% (1 of 60)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
urinary system 1.69% (1 of 59)
vibrissa 1.35% (1 of 74)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Cox5b 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 Cox5b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Progressive hyperpigmentation, Hyperme... OMIM:145250
Retinitis Pigmentosa 60
Pallor OMIM:613983
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Optic Atrophy 9
Pallor OMIM:616289
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Splenomegaly ORPHA:228312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Pallor, Splenomegaly OMIM:615234
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Splenomegaly, Syndactyly, Pallor, Jaundice OMIM:615631
Peripheral Cone Dystrophy
Pallor OMIM:609021
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Pallor, Splenomegaly ORPHA:75563
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Retinitis Pigmentosa 70
Pallor OMIM:615922
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Breath-Holding Spells
Pallor OMIM:607578
Albinism-Deafness Syndrome
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism OMIM:300700
Beta-Thalassemia
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Pallor, Skin ulcer ORPHA:848
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pallor, Jaundice OMIM:613839
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Retinitis Pigmentosa 73
Pallor OMIM:616544
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Senior-Loken Syndrome 8
Hepatic cysts, Pallor, Pancreatic cysts OMIM:616307
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Retinitis Pigmentosa 27
Pallor OMIM:613750
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pallor, Splenomegaly ORPHA:163596
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Myelofibrosis
Pallor, Purpura, Splenomegaly OMIM:254450
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly, Pallor, Jaundice OMIM:194380
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Evans Syndrome
Pallor, Petechiae, Jaundice ORPHA:1959
Leishmaniasis
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Pallor, Skin ulcer ORPHA:507
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Primary Myelofibrosis
Ecchymosis, Hepatomegaly, Petechiae, Splenomegaly, Hepatosplenomegaly, Purpura, Pallor, Portal hy... ORPHA:824
Beta-Thalassemia Intermedia
Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Cholelithiasis, Sple... ORPHA:231222
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:90037
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor OMIM:611590
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Elevated hep... ORPHA:263455
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:3226
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Pallor, Splenomegaly ORPHA:90033
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Pallor, Splenomegaly ORPHA:75564
Hereditary Spherocytosis
Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Skin ulcer, Jaundice ORPHA:822
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly ORPHA:98375
Myopathic Ehlers-Danlos Syndrome
Adducted thumb, Congenital finger flexion contractures, Talipes equinovarus, Tapered finger, Pallor ORPHA:536516
Dominant Beta-Thalassemia
Hepatic fibrosis, Hepatocellular carcinoma, Bowing of the long bones, Splenomegaly, Cirrhosis, Ge... ORPHA:231226
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Pallor ORPHA:99931
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Jaundice OMIM:246400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Beta-Thalassemia Major
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Bowing of the long bones, Splenomegaly,... ORPHA:231214
Retinitis Pigmentosa 51
Pallor OMIM:613464
Retinitis Pigmentosa 75
Pallor OMIM:617023
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hepatosplenomegaly, Pallor, Elevated hepatic iron concentration ORPHA:300298
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Pallor, Hepatomegaly ORPHA:348
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Pallor, Splenomegaly OMIM:300908
Fumarase Deficiency
Pallor, Cholestasis, Hepatic failure OMIM:606812
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Pallor ORPHA:98870
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Pallor ORPHA:331206
Dravet Syndrome
Pallor, Tibial torsion ORPHA:33069
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Splenomegaly, Decreased liver function, Purpura, Pallor, Jaundice ORPHA:90051
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Short 1st metacarpal, Short thumb, Absent thumb, Pallor OMIM:609053
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Acute pancreatitis, Elevated hepatic transaminas... ORPHA:20
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Rare Circulatory System Disease
Abnormal hand morphology, Pallor, Abnormal metatarsal morphology, Abnormality of finger ORPHA:98028
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Waldenström Macroglobulinemia
Hepatomegaly, Pallor, Purpura, Splenomegaly ORPHA:33226
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Beta-Ketothiolase Deficiency
Hepatomegaly, Pallor ORPHA:134
Tay-Sachs Disease
Pallor OMIM:272800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Pallor, Splenomegaly ORPHA:98849
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Portal fibrosis, Pancreatitis, Clubbing, Splenomegaly, Hepatosplenomegaly, Swelling ... ORPHA:3260
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Abnormality of the metaphysis, Splenomegaly, Pallor ORPHA:667
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Adenohypophysitis
Pallor ORPHA:95512
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Panhypophysitis
Pallor ORPHA:95513
Degcags Syndrome
Hepatomegaly, Toe syndactyly, Polydactyly, Talipes equinovarus, Abnormal spleen morphology, Genu ... OMIM:619488
Prolactinoma
Pallor ORPHA:2965
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Fanconi Anemia, Complementation Group D2
Anemic pallor, Annular pancreas, Complete duplication of thumb phalanx, Absent radius, Short thum... OMIM:227646
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Fanconi Anemia, Complementation Group E
Anemic pallor, Absent radius, Complete duplication of thumb phalanx, Short thumb, Absent thumb OMIM:600901
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Fanconi Anemia, Complementation Group A
Anemic pallor, Absent radius, Complete duplication of thumb phalanx, Short thumb, Absent thumb OMIM:227650
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pallor, Neoplasm of the pancreas, Pancreatic cysts ORPHA:892
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Diamond-Blackfan Anemia 1
Triphalangeal thumb, Hypoplasia of the radius, Short thumb, Partial duplication of thumb phalanx,... OMIM:105650
Fanconi Anemia, Complementation Group C
Anemic pallor, Absent radius, Complete duplication of thumb phalanx, Short thumb, Absent thumb OMIM:227645
Infection-Related Hemolytic Uremic Syndrome
Pallor, Pancreatitis ORPHA:544482
Esophageal Atresia
Pallor, Clinodactyly ORPHA:1199
Blackfan-Diamond Anemia
Triphalangeal thumb, Short thumb, Absent thumb, Partial duplication of thumb phalanx, Pallor ORPHA:124
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125
Goodpasture Syndrome
Pallor OMIM:233450

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 Cox5b

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 Cox5b.

No publications found that use IMPC mice or data for Cox5b.

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MGI Allele Allele Type Produced
Cox5btm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cox5btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cox5btm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cox5btm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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