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 |
|---|---|---|---|---|---|---|
| pallor | Cdc42bpbem1(IMPC)J | HOM | E18.5 | 0.00 | ||
| abnormal embryo size | Cdc42bpbem1(IMPC)J | HOM | E18.5 | 0.00 | ||
| preweaning lethality, incomplete penetrance | Cdc42bpbem1(IMPC)J | HOM | Early adult | 0.00 | ||
| abnormal embryo size | Cdc42bpbem1(IMPC)J | HET | E18.5 | 0.00 | ||
| abnormal embryo size | Cdc42bpbem1(IMPC)J | HET | E15.5 | 0.00 |
Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.
XRay Images Whole Body Dorso Ventral
9 Images
XRay Images Skull Dorso Ventral Orientation
9 Images
XRay Images Whole Body Lateral Orientation
9 Images
XRay Images Forepaw
9 Images
XRay Images Skull Lateral Orientation
9 Images
Waveform Image
18 Images
XRay Images Whole Body Dorso Ventral
9 Images
XRay Images Whole Body Lateral Orientation
9 Images
XRay Images Skull Dorso Ventral Orientation
9 Images
XRay Images Skull Lateral Orientation
9 Images
XRay Images Forepaw
9 Images
Images Ophthalmoscopy
4 Images
Images
2 Images
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Cdc42bpb by orthology or direct annotation.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Chilton-Okur-Chung Neurodevelopmental Syndrome | Intrauterine growth retardation | OMIM:619841 |
The table below shows human diseases predicted to be associated to Cdc42bpb by phenotypic similarity.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
| Breath-Holding Spells | Pallor | OMIM:607578 | |
| Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
| Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
| Autoimmune Hemolytic Anemia, Cold Type | Pallor | ORPHA:228312 | |
| Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
| Retinitis Pigmentosa 27 | Pallor | OMIM:613750 | |
| Dermatitis, Atopic | Facial erythema, Dry skin, Pallor | OMIM:603165 | |
| Optic Atrophy 1 | Pallor | OMIM:165500 | |
| Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Pallor | ORPHA:2786 | |
| Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
| Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
| Myelofibrosis | Purpura, Pallor | OMIM:254450 | |
| X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
| Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
| Hemoglobin D Disease | Pallor | ORPHA:90039 | |
| Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
| Irida Syndrome | Pallor | ORPHA:209981 | |
| Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Pallor | OMIM:613561 | |
| Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
| Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
| Elliptocytosis 1 | Pallor | OMIM:611804 | |
| Evans Syndrome | Petechiae, Pallor | ORPHA:1959 | |
| Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
| Cyclic Vomiting Syndrome | Pallor | OMIM:500007 | |
| Thiamine-Responsive Megaloblastic Anemia Syndrome | Pallor | ORPHA:49827 | |
| Anemia, Congenital Dyserythropoietic, Type Ib | Pallor | OMIM:615631 | |
| Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
| Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
| Beta-Thalassemia | Skin ulcer, Pallor | ORPHA:848 | |
| Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Pallor | ORPHA:276575 | |
| Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Pallor | ORPHA:276580 | |
| Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
| Leishmaniasis | Skin ulcer, Pallor | ORPHA:507 | |
| Kcnq2-Related Epileptic Encephalopathy | Facial erythema, Pallor | ORPHA:439218 | |
| Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Pallor | OMIM:611590 | |
| Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
| Primary Myelofibrosis | Ecchymosis, Purpura, Petechiae, Pallor | ORPHA:824 | |
| Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
| Autoimmune Hemolytic Anemia | Pallor | ORPHA:98375 | |
| Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
| Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
| Dravet Syndrome | Pallor | ORPHA:33069 | |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 | Pallor | OMIM:615234 | |
| Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
| Tay-Sachs Disease | Pallor | OMIM:272800 | |
| Fanconi Anemia, Complementation Group I | Intrauterine growth retardation, Pallor | OMIM:609053 | |
| Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
| Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
| Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Pallor | OMIM:600462 | |
| Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
| Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
| American Trypanosomiasis | Pallor | ORPHA:3386 | |
| Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
| Letterer-Siwe Disease | Pallor | OMIM:246400 | |
| Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
| Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
| Congenital Dyserythropoietic Anemia Type Iii | Pallor | ORPHA:98870 | |
| Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
| Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
| Beta-Thalassemia Intermedia | Skin ulcer, Pallor | ORPHA:231222 | |
| Hereditary Spherocytosis | Skin ulcer, Pallor | ORPHA:822 | |
| Fumarase Deficiency | Pallor | OMIM:606812 | |
| Myopathy, Mitochondrial, And Ataxia | Pallor | OMIM:617675 | |
| Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
| Sepsis In Premature Infants | Purpura, Petechiae, Pallor | ORPHA:90051 | |
| Rare Circulatory System Disease | Pallor | ORPHA:98028 | |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Pallor | ORPHA:300298 | |
| Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
| Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
| Aregenerative Anemia | Pallor | ORPHA:101096 | |
| Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
| Waldenström Macroglobulinemia | Purpura, Pallor | ORPHA:33226 | |
| Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
| Dominant Beta-Thalassemia | Skin ulcer, Pallor | ORPHA:231226 | |
| Adenohypophysitis | Pallor | ORPHA:95512 | |
| Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor | ORPHA:329971 | |
| Panhypophysitis | Pallor | ORPHA:95513 | |
| Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
| Pituitary Apoplexy | Pallor | ORPHA:95613 | |
| 3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
| Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
| Beta-Thalassemia Major | Skin ulcer, Pallor | ORPHA:231214 | |
| Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
| Prolactinoma | Pallor | ORPHA:2965 | |
| Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
| Incontinentia Pigmenti | Erythema, Pallor | OMIM:308300 | |
| Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
| Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
| Fanconi Anemia, Complementation Group C | Anemic pallor, Intrauterine growth retardation | OMIM:227645 | |
| Diamond-Blackfan Anemia 1 | Intrauterine growth retardation, Pallor | OMIM:105650 | |
| Histiocytoid Cardiomyopathy | Pallor | ORPHA:137675 | |
| Idiopathic Hypereosinophilic Syndrome | Pallor | ORPHA:3260 | |
| Fanconi Anemia, Complementation Group E | Anemic pallor | OMIM:600901 | |
| Esophageal Atresia | Pallor | ORPHA:1199 | |
| Fanconi Anemia, Complementation Group A | Anemic pallor | OMIM:227650 | |
| Degcags Syndrome | Intrauterine growth retardation, Pallor | OMIM:619488 | |
| Tsh-Secreting Pituitary Adenoma | Pallor | ORPHA:91347 | |
| Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
| Infection-Related Hemolytic Uremic Syndrome | Pallor | ORPHA:544482 | |
| Autosomal Recessive Malignant Osteopetrosis | Pallor | ORPHA:667 | |
| Von Hippel-Lindau Disease | Pallor | ORPHA:892 | |
| Blackfan-Diamond Anemia | Pallor | ORPHA:124 | |
| Fanconi Anemia, Complementation Group D2 | Anemic pallor | OMIM:227646 | |
| 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 | |
| Chilton-Okur-Chung Neurodevelopmental Syndrome | Intrauterine growth retardation | OMIM:619841 |
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| MGI Allele | Allele Type | Produced |
|---|---|---|
| Cdc42bpbtm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
| Cdc42bpbem1(IMPC)J | Exon Deletion | Mice |
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