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Gene: Rap1gap2 MGI:3028623

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Gene Summary

Name:
RAP1 GTPase activating protein 2
Synonyms:
Garnl4,  LOC380710

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased heart weight Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 9.35×10-06
abnormal auditory brainstem response Rap1gap2tm1b(EUCOMM)Hmgu HOM   Early adult 5.75×10-09
hyperactivity Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 9.76×10-10
increased aggression Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 2.98×10-06
increased circulating phosphate level Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 2.52×10-05

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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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Rap1gap2 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 Rap1gap2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Irritability, Hypocalcemic seizures OMIM:146200
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia, Irritability OMIM:239350
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Immunodeficiency 8
Hyperactivity OMIM:615401
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Autoimmune Hypoparathyroidism
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Hypsarrhythmia OMIM:619970
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Ethanolaminosis
Cardiomegaly OMIM:227150
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... OMIM:616648
Hyperprolinemia, Type I
Hyperprolinemia, EEG abnormality, Hyperactivity, Aggressive behavior OMIM:239500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hearing impairment, Hyperphosphatemia OMIM:614207
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
8p23.1 deletion syndrome
Abnormal heart morphology, Hyperactivity, Atrial septal defect, Atrioventricular canal defect DECIPHER:39
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Low-set ears, Posteriorly rotated ears, Hypocalcemic seizures OMIM:241410
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Glycine Encephalopathy
Hyperglycinemia, Hyperactivity, Aggressive behavior, Irritability OMIM:605899
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Hyperphenylalaninemia, A... OMIM:261600
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Anxiety, Optic atrophy, Hyperphosphatemia, Emotional lability ORPHA:428
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Hyperactivity, Aggressive behavior ORPHA:2382
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Aggressive behavior ORPHA:100973
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Abnormal autonomic nervous system physiology, Elevated circulating ... ORPHA:94093
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Hyperactivity, Continuous spike and waves during slow sleep, Anxie... ORPHA:98818
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Hearing im... OMIM:239000
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia OMIM:617113
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Elevated circulating gamma-amin... OMIM:271980
Sanjad-Sakati Syndrome
External ear malformation, Hyperphosphatemia, Low-set, posteriorly rotated ears, Hypocalcemia ORPHA:2323
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormal pinna morphology, Hyperactivity, Aggressive behavior OMIM:300983
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Coffin-Siris Syndrome 8
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, EEG with generalized epileptiform discharges, Self-biting... OMIM:619827
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalc... ORPHA:79444
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Cardiomyocyte mitochond... ORPHA:423
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hearing impairment, Hyperphosphatemia ORPHA:457059
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Aggressive behavior OMIM:619470
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... OMIM:301013
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting OMIM:618314
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Kenny-Caffey Syndrome, Type 2
Papilledema, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Pseudohypoparathyroidism Type 1A
Sensorineural hearing impairment, Hypocalcemia, Irritability, Anxiety, Hypocalcemic tetany, Hyper... ORPHA:79443
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Focal EEG discharges with secondary genera... ORPHA:3077
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hearing impairment, Hyperphosphatemia OMIM:101800
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Hepatomegaly OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Splenomegaly, Aggressive behavior, Asymmetric septal hypertrophy, He... OMIM:252920
Rasmussen Subacute Encephalitis
EEG with focal spikes, Hyperactivity, Irritability, Continuous spike and waves during slow sleep,... ORPHA:1929
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, EEG abnormality, Self-injurious behavior, Hyperactivity OMIM:618718
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Atrial septal defect, Pulmonic stenosis, EEG with burst suppression, Hypsarrhythmia OMIM:619239
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior OMIM:612716
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619467
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Skin-picking, Hepatomegaly, Hyperactivity, Self-mutilation, EEG with gener... ORPHA:163681
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, EEG abnormality, Hyperactivity ORPHA:411515
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529799
Smith-Magenis Syndrome
Head-banging, EEG abnormality, Hyperactivity, Self-mutilation, Hypertriglyceridemia, Morphologica... OMIM:182290
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:457260
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Hypocalcemia, Hyperphosphatemia ORPHA:280651
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Myoclonic-Astatic Epilepsy
Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal emotion/af... ORPHA:1942
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hearing impairment, Hyperactivity, Aggressive behavior ORPHA:369939
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Vitamin D-Dependent Rickets, Type 2A
Hearing impairment, Hypophosphatemia, Irritability, Hypocalcemic seizures OMIM:277440
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Myocarditis, Abnormal blood ion conc... ORPHA:31824
Cln5 Disease
EEG with focal spikes, Hyperactivity, EEG with spike-wave complexes, Anxiety, Aggressive behavior... ORPHA:228360
Fragile X Syndrome
Mitral valve prolapse, Hyperactivity, Self-biting, Macrotia OMIM:300624
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Hyperactivity, Aggressive behavior, Dysplastic pulmonary valve OMIM:300958
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Irritability, Hypocalcemic seizures OMIM:264700
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Hyperactivity, EEG with spike-wave complexes, EEG with general... ORPHA:168491
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Hyperactivity, Self-injurious behavior, Subvalvular aortic sten... OMIM:600430
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:466650
16P12.1P12.3 Triplication Syndrome
Large earlobe, Skin-picking, Atrial septal defect, Hyperactivity, Anxiety, Nail-biting, Attention... ORPHA:485405
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hepatomegaly, Splenomegaly, Hypercalcemia, Calcinosis OMIM:239200
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 55
High-frequency hearing impairment, Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, El... OMIM:619743
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Hypouricemia OMIM:616026
Mend Syndrome
Aortic valve stenosis, Hyperactivity, Elevated 8(9)-cholestenol, Aggressive behavior, Abnormal au... ORPHA:401973
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Hyperactivity, Aggressive behavior ORPHA:500180
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Irritability, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration OMIM:307800
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Metaphyseal Chondrodysplasia, Jansen Type
Hearing impairment, Hypophosphatemia, Hypercalcemia OMIM:156400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Mitral valve prolapse, Attention deficit hyperac... ORPHA:449291
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Hyperactivity, Aggressive behavior OMIM:610042
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hepatomegaly, Hyperactivity, Hypoproteinemia, Decreased HDL... ORPHA:247585
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Macrotia ORPHA:391307
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatomegaly, Atrial septa... ORPHA:79330
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia, Hepatomegaly ORPHA:2088
Developmental And Epileptic Encephalopathy 103
Hyperactivity, Continuous spike and waves during slow sleep, EEG with polyspike wave complexes, E... OMIM:619913
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Abnormal... ORPHA:909
Infantile Krabbe Disease
Decreased nerve conduction velocity, Irritability, Optic atrophy, Hearing impairment, Prolonged b... ORPHA:206436
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Hereditary Fructose Intolerance
Hypophosphatemia, Hepatomegaly, Hyperuricemia, Hypermagnesemia ORPHA:469
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Hearing impairment OMIM:252900
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Aganglionic megacolon, Abnormal circulating creatine concentration ORPHA:52503
Alport Syndrome 3, Autosomal Dominant
Sensorineural hearing impairment, Azotemia, Hypophosphatemia OMIM:104200
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Increased blood urea nitrogen, Optic atrophy, ... ORPHA:90321
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Abnormally folded helix, Atrial septal defect, Hyperactivity, Ventricular septal defect, Aggressi... OMIM:309520
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Postural hypotensio... OMIM:256800
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hepatomegaly, Hypokalemia, Hypocalcemia, Splenomegaly, Hyperala... ORPHA:699
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly, ... ORPHA:667
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Opsismodysplasia
Low-set ears, Hypophosphatemia, Posteriorly rotated ears OMIM:258480
Raine Syndrome
Abnormal pinna morphology, Protruding ear, Hypophosphatemia, Mixed hearing impairment, Low-set ea... OMIM:259775
Argininemia
Hyperactivity, Hepatomegaly, Hyperammonemia, Hyperargininemia, Irritability OMIM:207800
Dent Disease 1
Hypophosphatemia OMIM:300009
Trisomy 10P
EEG with focal spikes, EEG with burst suppression, Low voltage EEG, Abnormal auditory evoked pote... ORPHA:171929
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Oculocerebrorenal Syndrome Of Lowe
Protruding ear, EEG abnormality, Hypophosphatemia, Hypokalemia, Self-injurious behavior, Hypoammo... ORPHA:534
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Fibrous Dysplasia Of Bone
Hearing impairment, Hypophosphatemia, Hypercalcemia ORPHA:249
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mccune-Albright Syndrome
Hearing impairment, Hypophosphatemia ORPHA:562
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypomagnesemia, Hepatomegaly, Hypophosphatemia, Hypokalemia, Splenomega... OMIM:219800
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Bicarbonatur... ORPHA:3337
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Thyrotoxic Periodic Paralysis
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Transient hypophosphatemia... ORPHA:79102
Fructose Intolerance, Hereditary
Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia OMIM:229600
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... OMIM:216400
Chromosome 15Q25 Deletion Syndrome
Abnormal cardiac septum morphology, Hyperactivity, Ventricular septal defect, Dextrocardia, Atten... OMIM:614294
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Autosomal Recessive Hypophosphatemic Rickets
Sensorineural hearing impairment, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Hypophosphatemia ORPHA:89936
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia ORPHA:1652
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Choreoacanthocytosis
Apathy, Head-banging, Hepatomegaly, Self-injurious behavior, Abnormal autonomic nervous system ph... ORPHA:2388
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set ears, Hair-pulling ORPHA:447997
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437

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 Rap1gap2

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 Rap1gap2.

No publications found that use IMPC mice or data for Rap1gap2.

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MGI Allele Allele Type Produced
Rap1gap2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Rap1gap2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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