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Gene: Inpp5a MGI:2686961

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Gene Summary

Name:
inositol polyphosphate-5-phosphatase A
Synonyms:
N/A

Order Alleles

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 embryo size Inpp5aem1(IMPC)Tcp HET E15.5 0.00
abnormal skin coloration Inpp5aem1(IMPC)Tcp HOM E15.5 0.00
preweaning lethality, complete penetrance Inpp5aem1(IMPC)Tcp HOM   Early adult 0.00
abnormal embryo size Inpp5aem1(IMPC)Tcp HOM E15.5 0.00
decreased lean body mass Inpp5aem1(IMPC)Tcp HET   Early adult 1.40×10-05
pallor Inpp5aem1(IMPC)Tcp HOM E15.5 0.00
edema Inpp5aem1(IMPC)Tcp HOM E15.5 0.00
edema Inpp5aem1(IMPC)Tcp HET E15.5 0.00
increased total body fat amount Inpp5aem1(IMPC)Tcp HET   Early adult 3.77×10-05

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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.

Eye Morphology

Images Slit Lamp

108 Images

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Gross Morphology Embryo E14.5-E15.5

Images

55 Images

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Eye Morphology

Images Ophthalmoscopy

98 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Inpp5a 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 Inpp5a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Lipedema
Edema OMIM:614103
Kaposi Sarcoma, Susceptibility To
Hypermelanotic macule, Edema OMIM:148000
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst... OMIM:143100
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... OMIM:618369
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Rigidity, Parkinso... OMIM:221820
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypoplasia of the pons, Myoclonus, C... OMIM:225753
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Incoordination, Chorea, Gai... ORPHA:157941
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Spasticity, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ... ORPHA:284332
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... ORPHA:98769
Spinocerebellar Ataxia 35
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... OMIM:613908
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Pallor ORPHA:2786
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar hemisphere hypoplasia, Gliosis, Hype... OMIM:615095
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... ORPHA:276193
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Gait disturbance, Te... OMIM:604484
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Spasticity, Clonus, Tetraplegia, Neuronal loss in central nervous syst... OMIM:614959
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal ... OMIM:236792
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... ORPHA:204
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... OMIM:616948
Mastocytosis, Cutaneous
Erythema, Hypermelanotic macule, Edema OMIM:154800
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor... ORPHA:275872
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morpho... OMIM:105550
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Machado-Joseph Disease
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasc... OMIM:109150
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal motor funct... OMIM:604218
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Increased circulating lactate dehydrogenase concentration, Cerebellar atrophy, Abnorm... ORPHA:168486
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... ORPHA:98762
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Spasticity, Abnormal cerebellum morphology, Tremor, Hyperkinetic mo... OMIM:300957
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema... ORPHA:281127
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Decreased liver function, Difficulty walking, Cerebellar ve... ORPHA:512260
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Spastic tetr... OMIM:612936
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Pallor ORPHA:75563
Peripheral Cone Dystrophy
Pallor OMIM:609021
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, L... ORPHA:280210
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosis, Neuron... OMIM:256600
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys... OMIM:616127
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Breath-Holding Spells
Pallor OMIM:607578
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... ORPHA:284324
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Abnormal cerebellum morphology, Babinski sign, Corpus callosu... OMIM:169500
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Unsteady gait, Dysdiado... OMIM:615386
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... OMIM:617633
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Oligohydramnios, Pallor, Hydrops fetalis ORPHA:163596
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,... OMIM:611302
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Overweight, Uppe... ORPHA:457240
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Babinski s... OMIM:616204
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Inability to walk, Gliosis, Ataxia, Cerebellar gliosis, Cerebellar cyst, Basal ... ORPHA:79243
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, A... OMIM:221770
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Congenital Heart Block
Intrauterine growth retardation, Peripheral edema, Pleural effusion, Oligohydramnios, Pallor, Per... ORPHA:60041
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Babinski sign, Truncal ataxia, Progress... ORPHA:101112
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Spinocerebellar Ataxia 29
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, C... OMIM:117360
Hemimegalencephaly
Abnormal neuron morphology, Myoclonus, Gliosis, Hemiparesis ORPHA:99802
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Hypoplasia of the pons, Chorea, Cerebellar hypoplasia, Opisthotonus, G... OMIM:277470
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Hemiparesis OMIM:613002
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Spinocerebellar Ataxia 44
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Leigh Syndrome, Nuclear
Gliosis, Spasticity, Failure to thrive, Ataxia OMIM:256000
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cerebellar atrophy, Failure to thrive, Neurodegeneration, Diffuse cere... OMIM:214150
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Spinocerebellar Ataxia Type 17
Blepharospasm, Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Rigidity, Parkinson... ORPHA:98759
Tay-Sachs Disease
Global brain atrophy, Cerebellar atrophy, Fasciculations, Incoordination, Inability to walk, Abno... ORPHA:845
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Lower limb spasticity, Gliosis OMIM:615119
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased circulating lactate dehydrogenase concentration, Cerebellar atrophy, Cerebral atrophy, ... OMIM:619405
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Rigidity, Babinski sign, Clonus, Limb hypertonia, Myoclonic spasms, Hypertonia, Neuronal loss in ... OMIM:614498
Spinocerebellar Ataxia 4
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... OMIM:600223
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Gait disturbance, Gliosis, Unsteady gait OMIM:603896
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia OMIM:614229
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Cerebral palsy, Cerebral atrophy, Myoclonus, Opisthotonus,... OMIM:619847
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... ORPHA:98772
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Decreased ci... OMIM:248500
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Optic Atrophy 1
Pallor OMIM:165500
Combined Oxidative Phosphorylation Deficiency 58
Cerebellar atrophy, Difficulty walking, Gait ataxia, Myoclonus, Appendicular spasticity, Elevated... OMIM:620451
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
White Sponge Nevus 2
Edema OMIM:615785
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... OMIM:609270
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Fai... OMIM:203700
Parkinson Disease 1, Autosomal Dominant
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Pa... OMIM:168601
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Cerebellar atrophy, Cataplexy, Inability to walk, Diffuse cerebral atrophy... OMIM:617193
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Diffuse cerebral atro... OMIM:614946
Hemoglobin D Disease
Pallor ORPHA:90039
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Cerebellar atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervous system OMIM:616239
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Brain atrophy, Gliosis, Neuronal loss in central nervous sy... OMIM:604377
Leigh Syndrome
Hepatic failure, Spasticity, Involuntary movements, Cerebellar atrophy, Failure to thrive, Chorea... ORPHA:506
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Spastic tetraplegia, Tetraplegia, Hypertonia OMIM:608033
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Gliosis, Neuronal loss in cent... ORPHA:683
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Hepatic failure, Spasticity, Cerebellar atrophy, Postural tremor, Myoc... OMIM:301072
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Cerebellar hypoplasia, Diffuse cerebral atrophy, Head titubation, Gliosis, Spastic tetraplegia ORPHA:3240
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Park... ORPHA:411602
Kcnq2-Related Epileptic Encephalopathy
Cerebral edema, Facial erythema, Pallor ORPHA:439218
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Neurodegeneration, Chorea, Myoclonus, Gait ataxia, Gliosis, Ataxia, Spastic tet... OMIM:618321
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si... ORPHA:909
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Wells Syndrome
Skin vesicle, Edema ORPHA:901
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis OMIM:266200
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Supranuclear Palsy, Progressive, 1
Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Astrocytosis, Tremor, Rigidity, P... OMIM:601104
Familial Acute Necrotizing Encephalopathy
Spasticity, Rigidity, Gait disturbance, Gliosis, Hypertonia, Spastic tetraplegia ORPHA:88619
American Trypanosomiasis
Periorbital edema, Pallor, Edema ORPHA:3386
Molybdenum Cofactor Deficiency, Type B
Cerebral atrophy, Neonatal death, Diffuse cerebral atrophy, Opisthotonus, Molybdenum cofactor def... OMIM:252160
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Molybdenum Cofactor Deficiency, Type A
Sulfite oxidase deficiency, Cerebral atrophy, Aldehyde oxidase deficiency, Reduced xanthine dehyd... OMIM:252150
Irida Syndrome
Pallor ORPHA:209981
Sea-Blue Histiocytosis
Hyperpigmentation of the skin, Hypopigmentation of the skin, Petechiae, Edema ORPHA:158029
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Spasticity, Elevated circulating hepatic transaminase c... OMIM:124000
Retinitis Pigmentosa 51
Pallor OMIM:613464
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Cafe-au-lait spot OMIM:615234
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Lissencephaly, X-Linked, 2
Spasticity, Gliosis OMIM:300215
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Kleefstra Syndrome Due To A Point Mutation
Cerebellar hypoplasia, Gliosis, Large for gestational age, Failure to thrive ORPHA:261652
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Lymphedema ORPHA:3226
Lymphatic Malformation 10
Lymphedema OMIM:619369
Supranuclear Palsy, Progressive, 2
Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Rigidity, Parkinsonism, Gliosis, N... OMIM:609454
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Failure to thrive, C... ORPHA:404454
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Myelofibrosis
Purpura, Pallor OMIM:254450
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:26791
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Retinitis Pigmentosa 75
Pallor OMIM:617023
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Apraxia, Parkinsonism, Gliosis, Neuronal loss in central nervous system OMIM:607485
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Cafe-au-lait spot OMIM:609053
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Elliptocytosis 1
Pallor OMIM:611804
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Dravet Syndrome
Pallor ORPHA:33069
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Involuntary movements, Elevated circulating hepatic transaminase concentratio... OMIM:615273
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Edema ORPHA:329971
Spongiform Encephalopathy With Neuropsychiatric Features
Parkinsonism, Gliosis OMIM:606688
Cold Agglutinin Disease
Pallor ORPHA:56425
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Gliosis, Neonatal death OMIM:231680
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Failure to thrive, C... OMIM:261515
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Cockayne Syndrome
Spasticity, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Somatic ... ORPHA:191
Beta-Ketothiolase Deficiency
Pallor, Dehydration, Edema ORPHA:134
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Waldenström Macroglobulinemia
Pallor, Pleural effusion, Periorbital edema, Purpura, Pedal edema ORPHA:33226
Superficial Epidermolytic Ichthyosis
Erythema, Edema ORPHA:455
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Spasticity, Large for gestational age, Elevated circulating alkaline p... OMIM:300868
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor, Cafe-au-lait spot ORPHA:300298
Tay-Sachs Disease
Pallor OMIM:272800
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Sepsis In Premature Infants
Pallor, Purpura, Petechiae, Edema ORPHA:90051
Refractory Anemia With Excess Blasts
Anemic pallor, Pedal edema ORPHA:86839
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Mitochondrial Complex I Deficiency, Nuclear Type 2
Difficulty walking, Falls, Gliosis, Ankle clonus OMIM:618222
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Senior-Loken Syndrome 8
Pallor OMIM:616307
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Inability to walk, Decreased body weight, Limb hypertonia, Corpus callosum atrophy, G... OMIM:620371
Plummer-Vinson Syndrome
Pallor ORPHA:54028
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Dehydration OMIM:246450
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Dehydration, Edema ORPHA:20
Dominant Beta-Thalassemia
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231226
Childhood Absence Epilepsy
Pallor ORPHA:64280
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Letterer-Siwe Disease
Pallor OMIM:246400
Papillorenal Syndrome
Chiari type I malformation, Gliosis OMIM:120330
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Spasticity, Failure to thrive, Tremor, Dysmetria, Gliosis, Ataxia, ... OMIM:220111
Fumarase Deficiency
Ascites, Polyhydramnios, Pallor OMIM:606812
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor OMIM:301310
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cerebral cortical atrophy, Broad-based gait, Failure to thrive in infancy, Gait disturbance, Glio... ORPHA:268261
Beta-Thalassemia Major
Hyperpigmentation of the skin, Pallor, Skin ulcer ORPHA:231214
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Cerebellar vermis hypoplasia, Spasticity, Hypoplasia of the pons, Failure to thrive, Neurodegener... OMIM:620455
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Pallor, Dehydration OMIM:557000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Incontinentia Pigmenti
Erythema, Pallor, Abnormality of skin pigmentation OMIM:308300
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Anemic pallor, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:227645
Fanconi Anemia, Complementation Group E
Anemic pallor, Hyperpigmentation of the skin, Cafe-au-lait spot OMIM:600901
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Fanconi Anemia, Complementation Group A
Anemic pallor, Cafe-au-lait spot, Abnormality of skin pigmentation OMIM:227650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Aregenerative Anemia
Pallor ORPHA:101096
Alternating Hemiplegia Of Childhood
Pallor, Dehydration ORPHA:2131
Adenohypophysitis
Pallor ORPHA:95512
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Panhypophysitis
Pallor ORPHA:95513
Infection-Related Hemolytic Uremic Syndrome
Generalized edema, Pallor, Edema, Pleural empyema ORPHA:544482
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Helsmoortel-Van Der Aa Syndrome
Gliosis, Obesity, Failure to thrive, Truncal obesity OMIM:615873
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Pituitary Apoplexy
Pallor ORPHA:95613
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Idiopathic Hypereosinophilic Syndrome
Pallor, Pleural effusion, Joint swelling, Angioedema ORPHA:3260
Prolactinoma
Pallor ORPHA:2965
Histiocytoid Cardiomyopathy
Pulmonary edema, Pallor ORPHA:137675
Degcags Syndrome
Hypopigmentation of the skin, Intrauterine growth retardation, Pallor, Abnormality of skin pigmen... OMIM:619488
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor OMIM:277400
Esophageal Atresia
Polyhydramnios, Pallor ORPHA:1199
Gabriele-De Vries Syndrome
Gliosis, Small for gestational age, Tremor, Waddling gait ORPHA:506358
Fanconi Anemia, Complementation Group D2
Anemic pallor, Cafe-au-lait spot, Abnormality of skin pigmentation OMIM:227646
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis, Failure to thrive OMIM:617403
Neuroblastoma
Anemic pallor ORPHA:635
Von Hippel-Lindau Disease
Macular edema, Pallor ORPHA:892
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Pallor ORPHA:91347
Diamond-Blackfan Anemia
Pallor, Nonimmune hydrops fetalis ORPHA:124
Diamond-Blackfan Anemia 1
Spina bifida occulta, Intrauterine growth retardation, Pallor OMIM:105650
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Diets-Jongmans Syndrome
Gliosis OMIM:618846
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Inpp5a

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 Inpp5a.

No publications found that use IMPC mice or data for Inpp5a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Inpp5aem1(IMPC)Tcp Exon Deletion Mice
Inpp5atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Inpp5atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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