Gene Summary

Name:
CDC42 binding protein kinase beta
Synonyms:
DMPK-like

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
pallor Cdc42bpbem1(IMPC)J HOM E18.5 0.00
abnormal embryo size Cdc42bpbem1(IMPC)J HET E18.5 0.00
abnormal embryo size Cdc42bpbem1(IMPC)J HET E15.5 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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Electrocardiogram (ECG)

Waveform Image

18 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Gross Morphology Embryo E18.5

Images

2 Images

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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdc42bpb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 81
Pallor OMIM:617871
Retinitis Pigmentosa 42
Pallor OMIM:612943
Retinitis Pigmentosa 60
Pallor OMIM:613983
Optic Atrophy 9
Pallor OMIM:616289
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Breath-Holding Spells
Pallor OMIM:607578
Retinitis Pigmentosa 70
Pallor OMIM:615922
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Retinitis Pigmentosa 73
Pallor OMIM:616544
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Retinitis Pigmentosa 27
Pallor OMIM:613750
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
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Myelofibrosis
Pallor, Purpura OMIM:254450
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hemoglobin D Disease
Pallor ORPHA:90039
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Retinitis Pigmentosa 75
Pallor OMIM:617023
Irida Syndrome
Pallor ORPHA:209981
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Elliptocytosis 1
Pallor OMIM:611804
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Retinitis Pigmentosa 51
Pallor OMIM:613464
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Senior-Loken Syndrome 8
Pallor OMIM:616307
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
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Cold Agglutinin Disease
Pallor ORPHA:56425
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Primary Myelofibrosis
Ecchymosis, Pallor, Purpura, Petechiae ORPHA:824
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Fanconi Anemia, Complementation Group I
Pallor, Intrauterine growth retardation OMIM:609053
Dravet Syndrome
Pallor ORPHA:33069
Tay-Sachs Disease
Pallor OMIM:272800
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Rheumatic Fever
Pallor, Erythema ORPHA:3099
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
American Trypanosomiasis
Pallor ORPHA:3386
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Letterer-Siwe Disease
Pallor OMIM:246400
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
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Fumarase Deficiency
Pallor OMIM:606812
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Sepsis In Premature Infants
Pallor, Purpura, Petechiae ORPHA:90051
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Rare Circulatory System Disease
Pallor ORPHA:98028
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Adenohypophysitis
Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Panhypophysitis
Pallor ORPHA:95513
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Prolactinoma
Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Incontinentia Pigmenti
Pallor, Erythema OMIM:308300
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor OMIM:227645
Diamond-Blackfan Anemia 1
Pallor, Intrauterine growth retardation OMIM:105650
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Fanconi Anemia, Complementation Group A
Anemic pallor OMIM:227650
Degcags Syndrome
Pallor, Intrauterine growth retardation OMIM:619488
Esophageal Atresia
Pallor ORPHA:1199
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Von Hippel-Lindau Disease
Pallor ORPHA:892
Blackfan-Diamond Anemia
Pallor ORPHA:124
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

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 Cdc42bpb

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 Cdc42bpb.

No publications found that use IMPC mice or data for Cdc42bpb.

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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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