Gene: Cdc42bpb MGI:2136459
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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 embryo size | Cdc42bpbem1(IMPC)J | HET | E15.5 | 0.00 | ||
abnormal embryo size | Cdc42bpbem1(IMPC)J | HET | E18.5 | 0.00 | ||
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 |
Human diseases caused by Cdc42bpb 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.
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 | |
Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
Dermatitis, Atopic | Dry skin, Facial erythema, Pallor | OMIM:603165 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Pallor | ORPHA:2786 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Pallor | OMIM:613561 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
Cyclic Vomiting Syndrome | Pallor | OMIM:500007 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Pallor | ORPHA:49827 | |
Myelofibrosis | Purpura, Pallor | OMIM:254450 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Pallor | OMIM:615631 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Congenital Heart Block | Intrauterine growth retardation, Pallor | ORPHA:60041 | |
Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Hb Bart'S Hydrops Fetalis | Pallor | ORPHA:163596 | |
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 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Kcnq2-Related Epileptic Encephalopathy | Facial erythema, Pallor | ORPHA:439218 | |
Primary Myelofibrosis | Purpura, Petechiae, Pallor, Ecchymosis | ORPHA:824 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Pallor | OMIM:611590 | |
Dravet Syndrome | Pallor | ORPHA:33069 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Pallor | OMIM:615234 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
Fanconi Anemia, Complementation Group I | Intrauterine growth retardation, Pallor | OMIM:609053 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Pallor | OMIM:600462 | |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
American Trypanosomiasis | Pallor | ORPHA:3386 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Congenital Dyserythropoietic Anemia Type Iii | Pallor | ORPHA:98870 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
Anemia, Sideroblastic, And Spinocerebellar Ataxia | Intrauterine growth retardation, Pallor | OMIM:301310 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Hereditary Spherocytosis | Pallor, Skin ulcer | ORPHA:822 | |
Myopathy, Mitochondrial, And Ataxia | Pallor | OMIM:617675 | |
Sepsis In Premature Infants | Purpura, Petechiae, Pallor | ORPHA:90051 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Pallor | ORPHA:300298 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Waldenström Macroglobulinemia | Purpura, Pallor | ORPHA:33226 | |
Dominant Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:231226 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Anemic pallor | ORPHA:329971 | |
3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Beta-Thalassemia Major | Pallor, Skin ulcer | ORPHA:231214 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Fumarase Deficiency | Pallor | OMIM:606812 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Prolactinoma | Pallor | ORPHA:2965 | |
Incontinentia Pigmenti | Erythema, Pallor | OMIM:308300 | |
Methylmalonic Aciduria And Homocystinuria, Cblc Type | Pallor | OMIM:277400 | |
Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
Neuroblastoma | Anemic pallor | ORPHA:635 | |
Fanconi Anemia, Complementation Group C | Intrauterine growth retardation, Anemic pallor | OMIM:227645 | |
Histiocytoid Cardiomyopathy | Pallor | ORPHA:137675 | |
Esophageal Atresia | Pallor | ORPHA:1199 | |
Diamond-Blackfan Anemia 1 | Spina bifida occulta, Intrauterine growth retardation, Pallor | OMIM:105650 | |
Idiopathic Hypereosinophilic Syndrome | Pallor | ORPHA:3260 | |
Fanconi Anemia, Complementation Group E | Anemic pallor | OMIM:600901 | |
Fanconi Anemia, Complementation Group A | Anemic pallor | OMIM:227650 | |
Degcags Syndrome | Intrauterine growth retardation, Pallor | OMIM:619488 | |
Tsh-Secreting Pituitary Adenoma | Pallor | ORPHA:91347 | |
Infection-Related Hemolytic Uremic Syndrome | Pallor | ORPHA:544482 | |
Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
Diamond-Blackfan Anemia | Pallor | ORPHA:124 | |
Von Hippel-Lindau Disease | Pallor | ORPHA:892 | |
Autosomal Recessive Malignant Osteopetrosis | Pallor | ORPHA:667 | |
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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