Gene Summary

Name:
cathepsin M
Synonyms:
Catm,  1600027J17Rik,  Cat M

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 exploration in new environment Ctsmtm1(KOMP)Wtsi HOM Early adult 7.65×10-05
decreased mean corpuscular volume Ctsmtm1(KOMP)Wtsi HOM Early adult 1.55×10-14
increased fasting circulating glucose level Ctsmtm1(KOMP)Wtsi HOM Early adult 1.57×10-08
increased mean corpuscular hemoglobin concentration Ctsmtm1(KOMP)Wtsi HOM Early adult 5.86×10-05
increased monocyte cell number Ctsmtm1(KOMP)Wtsi HOM Early adult 1.12×10-10

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ctsm 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 Ctsm by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis OMIM:616871
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Alpha-Thalassemia
Microcytic anemia, Cognitive impairment, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglo... ORPHA:846
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia of the thymus... OMIM:612541
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Irritability, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Anxiety, Hyperglycemia OMIM:618970
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Transient neonatal diabetes mellitus, Maternal diabetes, Maturity-onset di... ORPHA:99886
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperplasia,... ORPHA:231222
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Methylcobalamin Deficiency Type Cble
Pancytopenia, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia ORPHA:2169
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hemoglobin A1c, ... ORPHA:552
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Irritabili... ORPHA:231214
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... ORPHA:811
Acquired Methemoglobinemia
Anxiety, Methemoglobinemia ORPHA:464453
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Leukocytosis, Memory impairment, Progressive neurologic deterioration, Hype... ORPHA:90065
Pancreatic And Cerebellar Agenesis
Anemia, Hypoglycemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Leukopenia, Insulin resistance, Hyperins... ORPHA:2298
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Hyperglycemia, Thrombocytopenia, Abnormal glucose homeostasis ORPHA:391673
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Self-injurious behavior, Anemia ORPHA:847
Lead Poisoning
Cognitive impairment, Memory impairment, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell... ORPHA:330015
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Brain abscess, Hypochromic microcytic ... ORPHA:97214

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 Ctsm

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 Ctsm.

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

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MGI Allele Allele Type Produced
Ctsmtm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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