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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 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
abnormal auditory brainstem response Rap1gap2tm1b(EUCOMM)Hmgu HOM   Early adult 5.75×10-09
increased heart weight Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 9.35×10-06
hyperactivity Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 9.76×10-10

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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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Developmental And Epileptic Encephalopathy 104
Hypsarrhythmia, Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability ORPHA:36913
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety OMIM:619031
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Hyperprolinemia, EEG abnormality OMIM:239500
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, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... OMIM:616648
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia, Hearing impairment OMIM:614207
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Restlessness OMIM:605899
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment OMIM:241520
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Agitation, Prominent ear helix, Impulsivity ORPHA:100973
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hyperuricemia, Anxiety, Abnormal autonomic nervous system physiology, Hyperkal... ORPHA:94093
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Aggressive behavior, Agitation OMIM:309548
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Low-set ears, Hypocalcemia, Posteriorly rotated ears OMIM:241410
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia OMIM:612462
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Hypocalcemic seizures, Hypocalcemia,... ORPHA:94089
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Optic atrophy, Emotional lability, Anxiety, Hypocalcemia, Hypomagnesemia ORPHA:428
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Dysphagia... OMIM:617519
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves ORPHA:2382
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:99845
Phenylketonuria
Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attent... OMIM:261600
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Landau-Kleffner Syndrome
Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Interictal EEG ... ORPHA:98818
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Calcinosis, Polyphagia, Hypocalcemic seizures, H... ORPHA:79444
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Sensorineural hearing impairment, Hydroxyprolinemia, Hearing im... OMIM:239000
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Macrotia, Aggressive behavior, Anxiety, Low-set ears, Posteriorly rotated ears OMIM:609425
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, External ear malformation, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, EEG abnormality, Elevated circulatin... OMIM:271980
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hyperphosphatemia, Sensorineural hearing impairment, Anxiety, Calcinosis, Po... ORPHA:79443
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis OMIM:211900
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy OMIM:619470
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Hearing impairment ORPHA:457059
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Self-injurious ... OMIM:619827
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Papilledema, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Hyperkalemia, Elevated creatine kin... ORPHA:423
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia, Aggressive behavior, Prominent crus of helix, Anxiety, Attention deficit... OMIM:301013
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Emotional lability, Decr... ORPHA:206443
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Abnormal aggressive, ... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Macrotia, Anteverted ears OMIM:615541
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Hearing impairment, Optic atrophy OMIM:101800
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Rasmussen Subacute Encephalitis
Hyperactivity, Increased theta frequency activity in EEG, EEG with focal spikes, Interictal epile... ORPHA:1929
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Asymmetric septal hypertrophy, Hearing impairment, Hepatomega... OMIM:252920
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hypomagnesemia, Hyperactivity, Self-biting OMIM:618314
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity, Anxiety, Abnormal eating behavior ORPHA:101039
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior ORPHA:382
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Hyperactivity, Self-injurious behavior, EEG abnormality OMIM:618718
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Happy demeanor, EEG abnormality ORPHA:411515
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Papilledema, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior OMIM:612716
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Aggressive behavior, Macrotia, Agitation, Anxiety, Restlessness OMIM:300558
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly, Polydipsia OMIM:239200
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Aggressive behavior, EEG abnormality, Impulsivity, Dysphagia ORPHA:500180
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, EEG with burst suppression, Hypsarrhythmia, Atrial septal defect, Pulmonic stenosis OMIM:619239
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... ORPHA:529799
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia, Agitation ORPHA:340
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Hypocalcemia, Hyperphosphatemia ORPHA:280651
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Aggressive behavior, Impulsivity, Attention deficit hyperactivity disorder, Pulmon... OMIM:620141
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Irritability, Hearing impairment, Hypocalcemic seizures OMIM:277440
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, EEG with focal ... ORPHA:163681
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Fragile X Syndrome
Hyperactivity, Macrotia, Mitral valve prolapse, Self-biting OMIM:300624
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Hearing impairment, Optic atrophy ORPHA:369939
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures OMIM:264700
Cystinosis
Hypokalemia, Hypophosphatemia, Polydipsia ORPHA:213
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Colchicine Poisoning
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Myoc... ORPHA:31824
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Myoclonic-Astatic Epilepsy
Hyperactivity, Abnormal emotion/affect behavior, EEG with polyspike wave complexes, Interictal ep... ORPHA:1942
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Cln5 Disease
Hyperactivity, Aggressive behavior, EEG with focal spikes, Multifocal epileptiform discharges, An... ORPHA:228360
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Irritability, Optic atrophy OMIM:616881
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration ORPHA:466650
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Atrial septal defect, Large earlobe, Attention deficit hyperactivity disorder, Ski... ORPHA:485405
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Abnormality of enteric ... ORPHA:85451
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia OMIM:275000
Citrullinemia Type Ii
Hyperactivity, Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decrease... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemia, Elevated circulating creatine kinase concentration, Mildly elevated creatine ki... OMIM:619743
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Hypouricemia OMIM:616026
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity grade 4, Hyperactivity, EEG with series of focal spikes, Aggre... ORPHA:168491
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Mend Syndrome
Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials, Elevated 8(9)-cholesteno... ORPHA:401973
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hearing impairment OMIM:156400
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, EEG abnormality OMIM:610042
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hearing impairment, Elevated circulating creatine kinase concentration OMIM:618838
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Mitral valve prolapse, Att... ORPHA:449291
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Left ventri... ORPHA:79330
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Juvenile Nephropathic Cystinosis
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... ORPHA:411634
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder, Pulmonic stenosis, Anxiety OMIM:617600
Cerebrotendinous Xanthomatosis
Aggressive behavior, Abnormality of somatosensory evoked potentials, Optic atrophy, Suicidal idea... ORPHA:909
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia, Hepatomegaly ORPHA:2088
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Alport Syndrome 3, Autosomal Dominant
Azotemia, Hypophosphatemia, Sensorineural hearing impairment, Hearing impairment OMIM:104200
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potential... ORPHA:206436
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Hepatomegaly, Hypermagnesemia ORPHA:469
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Polydipsia, Abnormal blood ion concentration ORPHA:411629
Pearson Syndrome
Splenomegaly, Hyperalaninemia, Hypophosphatemia, Hypokalemia, Abnormal heart morphology, Hepatome... ORPHA:699
Cystinosis, Nephropathic
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... OMIM:219800
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Hyperactivity, Abnormal circulating creatine concentration, Self-mutilation ORPHA:52503
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Abnormal autonomic nervous system physiology, Emotional lability, Self-mutilation,... OMIM:256800
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Abnormality of peripheral nerve conduction, Transient hypophosphatemia, Hyp... ORPHA:79102
Opsismodysplasia
Low-set ears, Hypophosphatemia, Posteriorly rotated ears OMIM:258480
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Raine Syndrome
Hypophosphatemia, Posteriorly rotated ears, Abnormal pinna morphology, Mixed hearing impairment, ... OMIM:259775
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Optic nerve compression, Hypophosphatemia, Abnormal pulmonary valve morphology, Hep... ORPHA:667
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Dent Disease 1
Hypophosphatemia OMIM:300009
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Self-injurious behavior, EEG abnormality, Anxiety, Hypophosphatemia, Hypoka... ORPHA:534
Argininemia
Hyperactivity, Hyperammonemia, Hyperargininemia, Hepatomegaly, Irritability OMIM:207800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Hearing impairment ORPHA:249
Mccune-Albright Syndrome
Hypophosphatemia, Hearing impairment ORPHA:562
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia, Polydipsia, Dysphagia ORPHA:99880
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypokalemia, Decreased plasma carnitine, Hypophosphatemic rickets, Bicarbonatur... ORPHA:3337
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia, Polydipsia, Dysphagia ORPHA:143
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:405
Fructose Intolerance, Hereditary
Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Hepatomegaly, Bicarbonaturia OMIM:229600
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:216400
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impa... ORPHA:289176
X-Linked Hypophosphatemia
Hypophosphatemia, Sensorineural hearing impairment ORPHA:89936
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
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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