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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
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
increased heart weight Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 9.35×10-06

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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 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
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, Irritability, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Depression, Hypocalcemia, Hypocalcemic tetany, Hyperphosphat... ORPHA:36913
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Depression, Hypocalcemia, Hypocalcemic tetany, Hyperphosphat... ORPHA:94089
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation, Hypsarrhythmia OMIM:619970
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, EEG abnormality, Hyperprolinemia, Aggressive behavior OMIM:239500
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials ORPHA:99852
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Hypsarrhythmia, Impulsivity OMIM:617113
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Landau-Kleffner Syndrome
Hyperactivity, Depression, Emotional lability, Impulsivity, EEG with frontal focal spikes, EEG wi... ORPHA:98818
Lennox-Gastaut Syndrome
Irritability, Hyperactivity, EEG abnormality, EEG with focal sharp slow waves, Aggressive behavior ORPHA:2382
Autosomal Dominant Hypocalcemia
Optic atrophy, Depression, Emotional lability, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Low-set ears, Posteriorly rotated ears, Hyperphosphatemia OMIM:241410
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Phenylketonuria
Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Attention d... OMIM:261600
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Abnormal autonomic nervous system physiolog... ORPHA:94093
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Depression, Hypocalcemia, Polyphagia, Hypocalcem... ORPHA:79444
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperuricemia, Sensorineural hearing impairment, Hearing impairment, Hyperphos... OMIM:239000
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Abnormal pinna morphology, Low-set, posteriorly rotated ears ORPHA:2323
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Late-Infantile/Juvenile Krabbe Disease
Irritability, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduct... ORPHA:206443
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Papilledema, Transient hypophosphatemia, Hyperphosphatemia OMIM:127000
Pseudohypoparathyroidism Type 1A
Irritability, Calcinosis, Hypocalcemic seizures, Depression, Sensorineural hearing impairment, Hy... ORPHA:79443
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Focal EEG discharges with secondary generalization, Abnormal fear-induced... ORPHA:3077
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Cardiomyocyte mitochond... ORPHA:423
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, EEG with generalized epileptiform discharges,... OMIM:619827
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, Bruxism,... OMIM:618718
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hearing impairment, Hyperphosphatemia OMIM:101800
Rasmussen Subacute Encephalitis
Irritability, Hyperactivity, EEG with focal spikes, Emotional lability, Increased theta frequency... ORPHA:1929
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Patent foramen ovale OMIM:617182
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Low frustration tolerance, EEG with focal ... ORPHA:163681
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia ORPHA:94059
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, Pulmonic stenosis, Atrial septal defect, EEG with burst suppression OMIM:619239
Cystinosis
Polydipsia, Hypokalemia, Hypophosphatemia, Motor stereotypy ORPHA:213
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Hypomagnesemia 3, Renal
Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio... OMIM:248250
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Low frustration toleran... ORPHA:168491
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Hearing impairment, Splenomegaly, Car... OMIM:252920
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Motor stereotypy, Attent... OMIM:620141
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Hepatomegaly, Hypercalcemia, Hypophosphatemia, Splenomegaly OMIM:239200
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Recurrent otitis media, Hyperactivity, Depression, Recurr... ORPHA:449291
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Agitation, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... OMIM:301013
Vitamin D-Dependent Rickets, Type 2A
Hearing impairment, Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Irritability, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Depression, Secundum atrial septal defect, Dysphoria, Motor stereotypy, Attention ... OMIM:620242
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Colchicine Poisoning
Myocarditis, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal ... ORPHA:31824
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time OMIM:616881
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hepatomegaly, Hypocalcemic seizures, Hypocalcemia, Cardiomyopathy, Hypophosphatemia... ORPHA:289157
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Elevat... ORPHA:247585
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hepatomegaly, Hypophosphatemia OMIM:605911
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, High-frequency hearing impairment, Elevated circulating creatine kinase... OMIM:619743
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemic rickets, Hepatosplenomegaly, Hypopho... OMIM:307800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hepatomegaly, Hypophosphatemia OMIM:616026
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
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
Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, A... ORPHA:85451
Mogs-Cdg
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Absent brainstem auditory response... ORPHA:79330
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Fanconi-Bickel Syndrome
Hepatomegaly, Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubine... OMIM:227810
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Depression, Abnormal auditory evok... ORPHA:909
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Metaphyseal Chondrodysplasia, Jansen Type
Hearing impairment, Hypercalcemia, Hypophosphatemia OMIM:156400
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hearing impairment, Elevated circulating creatine kinase concentration OMIM:618838
Infantile Krabbe Disease
Optic atrophy, Irritability, Delayed brainstem auditory evoked response conduction time, Decrease... ORPHA:206436
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Low-set ears, Aortic valve stenosis, Abnormal... ORPHA:401973
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormality, Aggre... OMIM:610042
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Alport Syndrome 3A, Autosomal Dominant
Hearing impairment, Sensorineural hearing impairment, Hypophosphatemia, Azotemia OMIM:104200
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Hypophosphatemia ORPHA:2088
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hereditary Fructose Intolerance
Hypermagnesemia, Hepatomegaly, Hypophosphatemia, Hyperuricemia ORPHA:469
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Optic nerve compression, Hypocalcemia, Hearing impairment, Abnormality of visual ev... ORPHA:667
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Pearson Syndrome
Hepatomegaly, Hypokalemia, Hypocalcemia, Cardiomyopathy, Hyperalaninemia, Hearing impairment, Abn... ORPHA:699
Infantile Nephropathic Cystinosis
Polydipsia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Cockayne Syndrome Type 1
Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Hearing impairment, Macrotia, I... ORPHA:90321
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Protruding ear, Low-set, posteriorly rotated ears, Hypokalemia, Depression,... ORPHA:534
Argininemia
Anorexia, Irritability, Hepatomegaly, Hyperactivity, Hyperargininemia, Hyperammonemia OMIM:207800
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Cystinosis, Nephropathic
Polydipsia, Hepatomegaly, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Dec... OMIM:219800
Opsismodysplasia
Low-set ears, Posteriorly rotated ears, Hypophosphatemia OMIM:258480
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Raine Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Low-set ears, Posteriorly rotated ears, Hypo... OMIM:259775
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Dent Disease 1
Hypophosphatemia OMIM:300009
Fibrous Dysplasia Of Bone
Hearing impairment, Hypercalcemia, Hypophosphatemia ORPHA:249
Mccune-Albright Syndrome
Hearing impairment, Hypophosphatemia ORPHA:562
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalaninemia, Abnormal circu... OMIM:612716
Cockayne Syndrome B
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairmen... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Sensorineural hearing impairmen... OMIM:216400
Fructose Intolerance, Hereditary
Bicarbonaturia, Hepatomegaly, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Autosomal Recessive Hypophosphatemic Rickets
Sensorineural hearing impairment, Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Hypophosphatemia ORPHA:89936
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652

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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