Gene Summary

Rap guanine nucleotide exchange factor (GEF) 2
Pdzgef1,  nRapGEP,  CNRasGEF,  RA-GEF-1,  5830453M24Rik

IMPC Phenotype Summary

Not Significant
Not tested


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 Rapgef2em1(IMPC)H HET   Early adult 6.87×10-05
preweaning lethality, complete penetrance Rapgef2em1(IMPC)H HOM   Early adult 0.00
increased circulating bilirubin level Rapgef2em1(IMPC)H HET Early adult 3.51×10-06
abnormal retina morphology Rapgef2em1(IMPC)H HET Early adult 1.15×10-16
embryonic lethality prior to tooth bud stage Rapgef2em1(IMPC)H HOM   E12.5 0.00

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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.

OPT E9.5

Embryo reconstruction

5 Images

Human diseases caused by Rapgef2 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 Rapgef2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Epilepsy, Familial Adult Myoclonic, 7

The table below shows human diseases predicted to be associated to Rapgef2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation, Premature birth, Microcephaly ORPHA:293
Retinopathy, Cognitive impairment, Hyperbilirubinemia, Elevated circulating C-reactive protein co... ORPHA:673
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hyd... OMIM:617967
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome Type 1
Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Microcephaly OMIM:601355
Schisis Association
Encephalocele, Premature birth, Spina bifida, Microcephaly, Anencephaly ORPHA:63862
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Anencephaly ORPHA:1681
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Anencephaly 2
Anencephaly OMIM:619452
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Decreased fetal movement, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Aplasia/Hypoplasia ... ORPHA:2570
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Placental Insufficiency
Intrauterine growth retardation, Abnormal umbilical cord blood vessel morphology, Abnormal placen... ORPHA:439167
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha... OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Aplasia/... ORPHA:1908
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Premature birth, Polyhydramnios, Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebe... OMIM:225790
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... OMIM:605013
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Distal Deletion 13Q
Encephalocele, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosence... ORPHA:1590
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Walker malformation OMIM:603194
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Neonatal death, Hydranencephaly, ... OMIM:236500
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal degeneration ORPHA:3363
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:614175
Premature birth, Absent septum pellucidum, Polyhydramnios, Hydrocephalus, Anencephaly, Agenesis o... ORPHA:2189
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida, Microcephaly ORPHA:64754
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly OMIM:611561
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, In... ORPHA:541423
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Agenesis of co... OMIM:207950
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta, Microcep... ORPHA:73272
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Encephalocele, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal... ORPHA:63259
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Intestinal bleeding, Bone marrow hypocellularity, Intrauterine growth retardation, Oral l... OMIM:612199
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Microcephaly, Patent ductus arteriosus, Anencephaly, Agenesis of corpus callosum, ... OMIM:619148
Cerebrocostomandibular Syndrome
Cerebral calcification, Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Porencephalic ... ORPHA:1393
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Vacterl/Vater Association
Occipital encephalocele, Premature birth, Polyhydramnios, Anencephaly, Single umbilical artery, I... ORPHA:887
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Hydrocephalus OMIM:313850
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Hypopl... OMIM:616546
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... OMIM:619991
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... ORPHA:2369
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Microcephaly ORPHA:1327
De Barsy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cutis laxa, Excessive wrinkled skin, High pa... ORPHA:2962
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Holoprosencep... OMIM:269860
Amish Lethal Microcephaly
Decreased fetal movement, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Lissencephaly... ORPHA:99742
Cutis Laxa, Autosomal Dominant 3
Intrauterine growth retardation, Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly, Polysplenia ORPHA:1335
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Cutis laxa, Excessive wrinkled skin, Intrauterine growth retardation, Dermal tr... OMIM:614438
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Dermal translucency OMIM:619115
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Neu-Laxova Syndrome 1
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Patent ductus ar... OMIM:256520
Meckel Syndrome, Type 1
Accessory spleen, Occipital encephalocele, Microcephaly, Asplenia, Large placenta, Patent ductus ... OMIM:249000
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Spina bifida ORPHA:1120
Trisomy 18
Spina bifida, Microcephaly, Anencephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencep... ORPHA:3380
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Spina bifida, Sirenomelia ORPHA:3169
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency OMIM:619120
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Umbilical hernia, Redundant skin, Dermal translucency OMIM:225410
Fontaine Progeroid Syndrome
Dermal translucency, Atrial septal defect, Bicuspid aortic valve, Redundant skin, Periventricular... OMIM:612289
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, High palate, Pulmonic stenosis, Atrial septa... OMIM:617506
Pilarowski-Bjornsson Syndrome
Dermal translucency OMIM:617682
Neu-Laxova Syndrome 2
Decreased fetal movement, Spina bifida, Microcephaly, Polyhydramnios, Lissencephaly, Cerebellar h... OMIM:616038
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Absent septum pellucidum, Polyhydramnios, Fetal akines... OMIM:208150
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Irritability, Hyperbilirubinemia OMIM:619685
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Retinal dystrophy, Hyperbilirubinemia ORPHA:713
Diabetic Embryopathy
Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Single... ORPHA:1926
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Polymicrogyria, Pulmonic stenosis, Dermal translucency OMIM:618343
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Cleft palate, Cutis laxa, Dermal translucency OMIM:615349
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Mosaic Trisomy 9
Spina bifida, Microcephaly, Asplenia, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, ... ORPHA:99776
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus, Mitral valve prolapse, High palate, Dermal translucency ORPHA:536467
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Meckel Syndrome
Encephalocele, Accessory spleen, Microcephaly, Asplenia, Hydrocephalus, Anencephaly, Lobar holopr... ORPHA:564
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency OMIM:137940
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Hydr... OMIM:609192
Neu-Laxova Syndrome
Decreased fetal movement, Cerebral calcification, Absent septum pellucidum, Spina bifida, Abnorma... ORPHA:2671
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Chromosome 17P13.1 Deletion Syndrome
Decreased fetal movement, Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus, Um... OMIM:613776
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Restrictive Dermopathy
Dextrocardia, Large placenta, Patent ductus arteriosus, Submucous cleft hard palate, Short umbili... ORPHA:1662
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... ORPHA:158057
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Barber-Say Syndrome
Redundant skin, Velopharyngeal insufficiency, High palate, Premature skin wrinkling, Dry skin, De... OMIM:209885
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Hydrolethalus Syndrome 1
Accessory spleen, Absent septum pellucidum, Abnormal cortical gyration, Polyhydramnios, Anencepha... OMIM:236680
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Patent ductus arteriosus, Hydr... OMIM:610168
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Autosomal Dominant Cutis Laxa
Redundant neck skin, Redundant skin, Dilatation of the ventricular cavity, Cutis laxa, Small bowe... ORPHA:90348
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Single umbilical artery, Intrau... ORPHA:3412
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia OMIM:619075
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia, Depression ORPHA:69665
Hepatoportal Sclerosis
Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Tethered cord, Spinal dysraphism OMIM:617660
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro... OMIM:616860
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Tethered cord, Spinal dysraphism OMIM:612918
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Large placenta, Polyhydramnios, Intrauterine growth retardation ORPHA:254528
Fibular Hemimelia
Thrombocytopenia, Spina bifida ORPHA:93323
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Depression ORPHA:293939
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Congenital malformation of the left heart, Severe intrauterine growth retardation,... ORPHA:3455
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Focal Dermal Hypoplasia
Umbilical hernia, Patent ductus arteriosus, Spina bifida ORPHA:2092
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Ring Chromosome 13 Syndrome
Agenesis of corpus callosum, Anencephaly, Microcephaly ORPHA:96176
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Eosinophilia, Spina bifida, Thrombocytopenia, Patent ductus arterio... OMIM:274000
Mosaic Trisomy 16
Premature birth, Large placenta, Patent ductus arteriosus, Single umbilical artery, Intrauterine ... ORPHA:1708
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia OMIM:613280
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Paten... OMIM:613795
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Irritability, H... OMIM:603553
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Irritability, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Pagod Syndrome
Encephalocele, Spina bifida, Microcephaly, Abnormality of the spleen, Meningocele ORPHA:991
Fibromuscular Dysplasia, Multifocal
Hiatus hernia, High palate, Striae distensae, Dermal translucency OMIM:619329
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Patent ductus arteriosus, Partial agenesis of the corpus callosum, T... OMIM:619480
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Nail-Patella Syndrome
Spina bifida OMIM:161200
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Spina bifida, Microcephaly, Patent ductus arteriosus,... ORPHA:84
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Polyhydramnios, Splenomegaly, Large placenta, Abnormalities of pl... OMIM:222470
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia ORPHA:1667
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Spina bifida, Microcephaly, Hypoplasia of the corpus callosum, Truncus ar... ORPHA:508498
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Optic atrophy, Irritability, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... OMIM:600145
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Ehlers-Danlos Syndrome, Vascular Type
Ecchymosis, Mitral valve prolapse, Anemia, Dermal translucency OMIM:130050
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Rod-cone dystrophy,... ORPHA:14
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... OMIM:304050
Jacobsen Syndrome
Premature birth, Spina bifida, Cerebral atrophy, Intrauterine growth retardation, Pachygyria, Age... ORPHA:2308
22Q11.2 Deletion Syndrome
Spina bifida, Microcephaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Meningocele, ... ORPHA:567
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Cutis laxa, Dermal translucency OMIM:614437
Basal Cell Nevus Syndrome 1
Calcification of falx cerebri, Hydrocephalus, Spina bifida OMIM:109400
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Spina bifida, Patent ductus arteriosus, Single umbilical ... OMIM:192350
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Hallermann-Streiff Syndrome
Spina bifida, Microcephaly OMIM:234100
Graft Versus Host Disease
Irritability, Hyperbilirubinemia ORPHA:39812
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Kagami-Ogata Syndrome
Large placenta, Premature birth, Polyhydramnios ORPHA:254519
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Pyruvate Kinase Deficiency Of Red Cells
Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia OMIM:251880
Autoimmune Hepatitis
Depression, Increased total bilirubin ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia OMIM:613673
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Restrictive Dermopathy 1
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... OMIM:275210
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Attention deficit hyperactivity disorder, Hypercholesterolemia, Abnormal circulating ... ORPHA:90674
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Encephalocele, Microcephaly, Abnormality of the spleen, Hydrocephalus, Spinal cord tumor, Spinal ... ORPHA:2162
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... ORPHA:573278
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Dementia, Hypoalbuminemia, High ... OMIM:277900
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Microcephaly, Hydrocephalus, Fetal pyelectasis, Dural ectasia, Hypoplasia of the co... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Microcephaly, Hydrocephalus, Fetal pyelectasis, Dural ectasia, Hypoplasia of the co... ORPHA:363958
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Optic nerve dysplasia, Optic atrophy, Elevated circulating phytani... OMIM:614866
Rubinstein-Taybi Syndrome 1
Accessory spleen, Spina bifida, Microcephaly, Polyhydramnios, Patent ductus arteriosus, Hyperinte... OMIM:180849
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Redundant skin, High, narrow palate, Mitral valve prolapse, Exce... ORPHA:286
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Glycogen Storage Disease Xii
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia OMIM:611881
Fumarase Deficiency
Optic atrophy, Hyperbilirubinemia OMIM:606812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Campomelic Dysplasia
Hydrocephalus, Polyhydramnios, Spina bifida, Spinal dysraphism OMIM:114290
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Vitreous hemorrhage, Retinal hemorrhage, Hyperbilirubinemia ORPHA:464321
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Spinal dysraphism ORPHA:175
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... ORPHA:90038
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Short attention span, Depression, Irritability, Diminished ability to concentrate, Attention defi... OMIM:619475
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Premature birth, Polyhydramnios, Microcephaly, Large placenta, Spinal dysraphism, Hepatosplenomeg... ORPHA:96334
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Beckwith-Wiedemann Syndrome
Premature birth, Polyhydramnios, Splenomegaly, Large placenta, Subchorionic septal cyst, Umbilica... ORPHA:116
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Retinal degeneration OMIM:208500
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hyperkalemia OMIM:608885
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Caroli Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:480520
Hardikar Syndrome
Pigmentary retinopathy, Irritability, Hyperbilirubinemia OMIM:301068
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Ogden Syndrome
Irritability, Hyperbilirubinemia OMIM:300855
Senior-Boichis Syndrome
Attention deficit hyperactivity disorder, Increased total bilirubin ORPHA:84081
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Microcephaly ORPHA:322
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Caroli Disease
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration ORPHA:53035
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Unconjugated hyperbilirubinemia OMIM:618278
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia, Progressive neurologic deterioration OMIM:210710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Optic disc coloboma, Unconjugated hyperbilirubinemia OMIM:620186
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Congenital Disorder Of Glycosylation, Type Iim
Rod-cone dystrophy, Neonatal hyperbilirubinemia OMIM:300896
Yellow Fever
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... ORPHA:99829
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Epilepsy, Familial Adult Myoclonic, 7


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 Rapgef2

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 Rapgef2.

No publications found that use IMPC mice or data for Rapgef2.

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MGI Allele Allele Type Produced
Rapgef2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rapgef2em1(IMPC)H Exon Deletion Mice
Rapgef2em2(IMPC)H Exon Deletion Mice
Rapgef2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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