Gene Summary

Name:
cathepsin O
Synonyms:
A330105D01Rik

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
decreased circulating bilirubin level Ctsotm2b(KOMP)Wtsi HOM Early adult 5.13×10-05
abnormal vibrissa morphology Ctsotm2b(KOMP)Wtsi HOM Early adult 2.12×10-05
increased mean platelet volume Ctsotm2b(KOMP)Wtsi HOM Early adult 2.13×10-10
decreased circulating calcium level Ctsotm2b(KOMP)Wtsi HOM Early adult 2.34×10-06

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
Adrenal gland  Wholemount images heterozygote 100% (1 of 1)
Aorta  Wholemount images heterozygote 100% (1 of 1)
Brain  Wholemount images heterozygote 100% (1 of 1)
Brainstem  Wholemount images heterozygote 100% (1 of 1)
Cartilage tissue  Wholemount images heterozygote 100% (1 of 1)
Cerebellum  Wholemount images heterozygote 100% (1 of 1)
Cerebral cortex  Wholemount images heterozygote 100% (1 of 1)
Gall bladder  Wholemount images heterozygote 100% (1 of 1)
Hippocampus  Wholemount images heterozygote 100% (1 of 1)
Hypothalamus  Wholemount images heterozygote 100% (1 of 1)
Kidney  Wholemount images heterozygote 100% (1 of 1)
Large intestine  Wholemount images heterozygote 100% (1 of 1)
Lower urinary tract  Wholemount images heterozygote 100% (1 of 1)
Lymph node  Wholemount images heterozygote Ambiguous
Olfactory lobe  Wholemount images heterozygote 100% (1 of 1)
Parathyroid gland  Wholemount images heterozygote 100% (1 of 1)
Peripheral nervous system  Wholemount images heterozygote 100% (1 of 1)
Pituitary gland  Wholemount images heterozygote 100% (1 of 1)
Small intestine  Wholemount images heterozygote 100% (1 of 1)
Spinal cord  Wholemount images heterozygote 100% (1 of 1)
Stomach  Wholemount images heterozygote 100% (1 of 1)
Striatum  Wholemount images heterozygote 100% (1 of 1)
Testis  Wholemount images heterozygote 100% (1 of 1)
Thymus  Wholemount images heterozygote 100% (1 of 1)
Trachea  Wholemount images heterozygote 100% (1 of 1)
Vascular system  Wholemount images heterozygote 0.0% (0 of 1)
Adrenal gland N/A homozygote 100% (1 of 1)
Aorta N/A homozygote 100% (1 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Bone N/A homozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Brainstem N/A homozygote 100% (1 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A homozygote 0.0% (0 of 1)
Cartilage tissue N/A homozygote 100% (1 of 1)
Cerebellum N/A homozygote 100% (1 of 1)
Cerebral cortex N/A homozygote 100% (1 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Esophagus N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Gall bladder N/A homozygote 100% (1 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 100% (1 of 1)
Hippocampus N/A homozygote 100% (1 of 1)
Hypothalamus N/A homozygote 100% (1 of 1)
Kidney N/A homozygote 100% (1 of 1)
Large intestine N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 100% (1 of 1)
Lower urinary tract N/A homozygote 100% (1 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 100% (1 of 1)
Lymph node N/A homozygote 100% (1 of 1)
Mammary gland N/A heterozygote Not available
Mammary gland N/A homozygote 0.0% (0 of 1)
Olfactory lobe N/A homozygote 100% (1 of 1)
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A homozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Ovary N/A homozygote 100% (1 of 1)
Oviduct N/A heterozygote Not available
Oviduct N/A homozygote 100% (1 of 1)
Pancreas N/A heterozygote 0.0% (0 of 1)
Pancreas N/A homozygote 100% (1 of 1)
Parathyroid gland N/A homozygote 100% (1 of 1)
Peripheral nervous system N/A homozygote 100% (1 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A homozygote 0.0% (0 of 1)
Pituitary gland N/A homozygote 100% (1 of 1)
Prostate gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A homozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skeletal muscle N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Small intestine N/A homozygote 100% (1 of 1)
Spinal cord N/A homozygote 100% (1 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Spleen N/A homozygote 0.0% (0 of 1)
Stomach N/A homozygote 100% (1 of 1)
Striatum N/A homozygote 100% (1 of 1)
Testis N/A homozygote Not available
Thymus N/A homozygote 100% (1 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A homozygote Ambiguous
Trachea N/A homozygote 100% (1 of 1)
Uterus N/A heterozygote Not available
Uterus N/A homozygote 100% (1 of 1)
Vascular system N/A homozygote 100% (1 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A homozygote 0.0% (0 of 1)
No Embryo expression data was found for this gene.

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%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 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%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Wholemount

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Ctso 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 Ctso by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Bleeding Disorder, Platelet-Type, 21
Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla... OMIM:617443
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Hypocalcemia, Anemia ORPHA:100025
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Abnormality of thrombocytes, Hypocalcemia ORPHA:172
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia, Hirsu... OMIM:612526
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Adamantinoma
Hypercalcemia ORPHA:55881
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
2P21 Microdeletion Syndrome
Long eyelashes, Hypocalcemia ORPHA:163693
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
X-Linked Agammaglobulinemia
Alopecia, Anemia, Hypocalcemia, Neutropenia, Thrombocytopenia ORPHA:47
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Thrombocytosis, Increased mean platelet volume, Splenomegaly, Fine hair... OMIM:222470
Albers-Sch├Ânberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Hypercalcemia, Hypocalcemia ORPHA:557003
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Colchicine Poisoning
Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal... ORPHA:31824
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Hypotonia-Cystinuria Syndrome
Long eyelashes, Hypocalcemia OMIM:606407
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Synophrys, Thrombocytopenia OMIM:616737
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volume, Splenomeg... ORPHA:84064
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Oculoskeletodental Syndrome
Hypercalcemia, Splenomegaly, Low anterior hairline, Low posterior hairline, Hypocalcemia OMIM:618440
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Generalized hirsutism ORPHA:1563
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Ab... ORPHA:37042
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Iron deficiency anemia, Hypocalcemia, Thrombocytosis OMIM:212750
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypocalcemia, Hypophosphatemia ORPHA:93160
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Timothy Syndrome
Hypocalcemia OMIM:601005
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hypertrichosis OMIM:235255
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Synophrys, Thrombocytopenia ORPHA:487796
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Hypertrichosis ORPHA:1655
Autosomal Dominant Hypocalcemia
Alopecia, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Long eyelashes, Hypocalcemia OMIM:618476
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok... ORPHA:699
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function, Hypocalcemic tetany, Hyp... ORPHA:79443
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Cartilage-Hair Hypoplasia
Sparse eyebrow, Hypocalcemia, Neutropenia, Sparse hair, Anemia ORPHA:175
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... ORPHA:2785
Infantile Myofibromatosis
Abnormal hair morphology, Hypercalcemia ORPHA:2591
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia ORPHA:544482
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia ORPHA:667
Liver Disease, Severe Congenital
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati... OMIM:619991
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Hennekam Syndrome
Splenomegaly, Lymphopenia, Hypocalcemia, Sparse axillary hair ORPHA:2136
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... ORPHA:199299
Gitelman Syndrome
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Fine hair, Hypocalcemia, Sparse hair OMIM:218330
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia ORPHA:567
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increased cir... ORPHA:95409
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures ORPHA:93325
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Hemolytic anemia, Sy... OMIM:619503
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Monosomy 13Q34
Hypercalcemia, Horizontal eyebrow ORPHA:96168
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Sparse axillary hair, Thiamine-responsive megalob... ORPHA:85138
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Synophrys, Hypercalcemia ORPHA:476126
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Digeorge Syndrome
Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia OMIM:188400
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Alopecia universalis, Hypophosphatemia OMIM:277440
Johanson-Blizzard Syndrome
Sparse scalp hair, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splen... OMIM:243800
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Pheochromocytoma
Hypercalcemia OMIM:171300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Charge Syndrome
Lymphopenia, Hypocalcemia OMIM:214800
Glucagonoma
Normochromic anemia, Hypercalcemia, Acanthocytosis ORPHA:97280
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Osteopetrosis, Autosomal Recessive 7
Anemia, Splenomegaly, Hypocalcemic seizures OMIM:612301
Sarcoidosis
Hemolytic anemia, Alopecia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count... ORPHA:797
Ppoma
Hypercalcemia ORPHA:97278
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Premature graying of hair, Hypercalcemia OMIM:194050
Sotos Syndrome
Acute lymphoblastic leukemia, Sparse anterior scalp hair, Hypercalcemia ORPHA:821

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 Ctso

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 Ctso.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ctsotm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ctsotm44960(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ctsotm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ctsotm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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