Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 total body fat amount Inpp5aem1(IMPC)Tcp HET   Early adult 1.41×10-05
decreased lean body mass Inpp5aem1(IMPC)Tcp HET Early adult 7.41×10-05
preweaning lethality, complete penetrance Inpp5aem1(IMPC)Tcp HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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 enzyme/coenzyme activity OMIM:125460
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Gait ataxia, Spasticity, Gliosis, Torticollis OMIM:618369
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Spasticity,... OMIM:213200
Huntington Disease
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... OMIM:143100
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Parkinsonism, Intention tremor, Apraxia, Bradykinesia, Ataxia, Gai... OMIM:607136
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:617769
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Pontocerebellar Hypoplasia, Type 4
Cerebellar hypoplasia, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypo... OMIM:225753
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Parkinsonism, Shuffling gait, Apraxia, Global brain atrophy, Bradyki... OMIM:221820
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Involuntary movem... ORPHA:157941
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait OMIM:616410
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Spinocerebellar Ataxia 38
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:615957
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cerebellar atrophy, Spastic gait OMIM:617133
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... ORPHA:284332
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Distal sen... OMIM:604484
Developmental And Epileptic Encephalopathy 14
Tetraplegia, Spasticity, Clonus, Cerebral cortical atrophy, Gliosis, Neuronal loss in central ner... OMIM:614959
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... ORPHA:276193
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Cerebellar atrophy, Small for gestational age, Spasticity, Gliosis, Hypertonia OMIM:615095
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwheel rigidity, Gait disturbance, Myoc... ORPHA:363710
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Increased circulating lactate dehydrogenase concentration, Abnormal astrocyte... ORPHA:168486
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Cerebellar atrophy, Dysmetria, Intention tremor, Lower limb spasticity, ... OMIM:616948
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... ORPHA:204
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Spastic tetraplegia, Spastic paraplegia, Cerebral palsy, Gliosis, Babinski sign OMIM:612936
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... OMIM:105550
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, Global brain atrophy... ORPHA:275872
Machado-Joseph Disease
Cerebellar atrophy, Parkinsonism, Dilated fourth ventricle, Impaired vibratory sensation, Fascicu... OMIM:109150
Spinocerebellar Ataxia 35
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... OMIM:613908
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Gliosis, Neuronal loss in central nervous system, Ab... OMIM:604218
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... ORPHA:98762
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Neur... OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Cerebellar atrophy, Cerebellar hypoplasia, Unsteady gait, Spasticity, Limb ataxia, ... OMIM:615768
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... OMIM:613728
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Gait ataxia, Limb ataxia, Positive Romberg sign OMIM:617770
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Diffuse cereb... OMIM:614946
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Decreased liver ... ORPHA:512260
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Tremor, Abnormal cerebellum morphology, Truncal obesity, Spasticity, I... OMIM:300957
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Unste... OMIM:256600
Spinocerebellar Ataxia 19
Cerebellar atrophy, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia, T... OMIM:607346
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Inability to walk, Lower limb spasticity, Ataxia, Failure to thrive, Dysto... ORPHA:280210
L-2-Hydroxyglutaric Aciduria
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Global brain atrophy, Corpus c... OMIM:236792
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... OMIM:617633
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Hepatic failure, Ataxia, Gait ataxia, Distal sensory impairme... OMIM:616719
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Paralysis, Hepatic failure, Astrocytosis, Ataxia, Failure to thrive, Elevated... OMIM:203700
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Motor stereotypy, Overweight, Gait disturbance, Gliosis, Upper limb spastic... ORPHA:457240
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Abnormal cerebellum morphology, Ataxia, Spasticity, Corpus callosum atrophy, Gliosis, Babinski si... OMIM:169500
Spinocerebellar Ataxia, X-Linked 3
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Unilateral vocal cord paralysis,... OMIM:301790
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Rigidity, Clonus, Gliosis, Neuronal loss in central nervous system, Babinski si... OMIM:614498
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Caudate atrophy, Apraxia, Spasticity, Gait disturbance, Gliosis, Babinski sign,... OMIM:221770
Spinocerebellar Ataxia, Autosomal Recessive 18
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... OMIM:616204
Spinocerebellar Ataxia, Autosomal Recessive 7
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... OMIM:609270
Familial Infantile Bilateral Striatal Necrosis
Tetraparesis, Spastic tetraparesis, Frequent falls, Basal ganglia gliosis, Choreoathetosis, Astro... ORPHA:225154
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Pontocerebellar Hypoplasia, Type 2A
Extrapyramidal dyskinesia, Opisthotonus, Cerebellar hypoplasia, Gliosis, Cerebral cortical atroph... OMIM:277470
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Progressive cerebellar ataxia, Limb ataxia, Progressive gait ataxia, Truncal ... ORPHA:101112
Cerebrooculofacioskeletal Syndrome 1
Cerebellar hypoplasia, Failure to thrive, Gliosis OMIM:214150
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Distal sensory impairment, Oculomotor apraxia OMIM:615217
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Basal ganglia gliosis, Small for gestational age, Cerebellar cyst, Inability to... ORPHA:79243
Spinocerebellar Ataxia 29
Dysmetria, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Impaired tandem gait, Broad-... OMIM:117360
Hemimegalencephaly
Gliosis, Abnormal neuron morphology, Hemiparesis, Myoclonus ORPHA:99802
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Hemiparesis OMIM:613002
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:617691
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progr... ORPHA:352403
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Increased circulating lactate dehydrogenase conc... OMIM:619405
Spinocerebellar Ataxia 5
Incoordination, Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Intention tremor, Ga... OMIM:600224
Spinocerebellar Ataxia Type 17
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Cerebellar atrophy, Parkin... ORPHA:98759
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Ataxia, Gait ataxia, ... ORPHA:208513
Spinocerebellar Ataxia 26
Incoordination, Cerebellar atrophy, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:609306
Spinocerebellar Ataxia 4
Cerebellar atrophy, Progressive cerebellar ataxia, Distal sensory impairment, Limb dysmetria, Bab... OMIM:600223
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Atrophy of the spinal cord, Atrophy/... ORPHA:445062
Leigh Syndrome
Gliosis, Failure to thrive, Spasticity, Ataxia OMIM:256000
Pick Disease Of Brain
Gliosis, Neuronal loss in central nervous system OMIM:172700
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... ORPHA:98772
Tay-Sachs Disease
Incoordination, Ankle clonus, Cerebellar atrophy, Dysmetria, Frequent falls, Decerebrate rigidity... ORPHA:845
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Gliosis, Failure to thrive, Ataxia, Tremor OMIM:220111
Leukoencephalopathy With Vanishing White Matter
Gliosis, Gait disturbance, Spasticity, Unsteady gait OMIM:603896
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... OMIM:133190
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Spasticity, Neurodegeneration, Gliosis, Neuronal loss in central nervous system OMIM:616239
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Dysmetria, Abnormal pyramidal sign, Titubat... ORPHA:397946
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cerebral atrophy, Ataxia, Chorea, Neurodegeneration, Gliosis OMIM:618321
Progressive Supranuclear Palsy
Blepharospasm, Bradykinesia, Unsteady gait, Rigidity, Cerebral cortical atrophy, Gliosis, Neurona... ORPHA:683
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cataplexy, Inability to walk, A... OMIM:617193
Spinocerebellar Ataxia 15
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Cerebellar atrophy, Limb ataxia, Ataxia OMIM:614229
Spastic Paraplegia 39, Autosomal Recessive
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... OMIM:612020
Leigh Syndrome
Cerebellar atrophy, Hepatic failure, Choreoathetosis, Involuntary movements, Olivopontocerebellar... ORPHA:506
Mannosidosis, Alpha B, Lysosomal
Abnormal pyramidal sign, Cerebellar atrophy, Gait ataxia, Spasticity, Corpus callosum atrophy, Ce... OMIM:248500
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Tetraplegia, Spastic tetraplegia, Hypertonia OMIM:608033
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Gliosis, Parkinsonism, Degeneration of anterior horn cells, Trophic limb changes OMIM:118301
Hereditary Late-Onset Parkinson Disease
Frequent falls, Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Akinesia, Rigidity, C... ORPHA:411602
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Spastic tetraplegia, Cerebellar hypoplasia, Diffuse cerebral atrophy, Head titubation, Gliosis ORPHA:3240
Adducted Thumbs Syndrome
Myelin-dependent gliosis OMIM:201550
Primary Non-Essential Cutis Verticis Gyrata
Gliosis ORPHA:357225
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dysarthria, ... ORPHA:98760
Cerebrotendinous Xanthomatosis
Global brain atrophy, Paraparesis, Abnormal cerebellar peduncle morphology, Abnormality of extrap... ORPHA:909
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Central nervous system degeneration, Cerebral atrophy, Cerebellar hypoplasia, Failure to thrive, ... OMIM:602613
Parkinson Disease 1, Autosomal Dominant
Parkinsonism, Resting tremor, Shuffling gait, Bradykinesia, Rigidity, Gait disturbance, Gliosis, ... OMIM:168601
Molybdenum Cofactor Deficiency, Complementation Group A
Cerebral atrophy, Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Alde... OMIM:252150
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, S... OMIM:137440
Familial Acute Necrotizing Encephalopathy
Spastic tetraplegia, Rigidity, Spasticity, Gait disturbance, Gliosis, Hypertonia ORPHA:88619
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Apraxia, Cerebral cortical atrophy, Gliosis, Neuron... OMIM:607485
Lissencephaly, X-Linked, 2
Gliosis, Spasticity OMIM:300215
Kleefstra Syndrome Due To A Point Mutation
Cerebellar hypoplasia, Failure to thrive, Large for gestational age, Gliosis ORPHA:261652
Molybdenum Cofactor Deficiency, Complementation Group B
Cerebral atrophy, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Gliosis, Molybdenum cofact... OMIM:252160
Supranuclear Palsy, Progressive, 2
Parkinsonism, Eyelid apraxia, Bradykinesia, Akinesia, Neuronal loss in central nervous system, Ri... OMIM:609454
Supranuclear Palsy, Progressive, 1
Parkinsonism, Eyelid apraxia, Bradykinesia, Akinesia, Neuronal loss in central nervous system, Ri... OMIM:601104
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebral atrophy, Cerebellar atrophy, Action tremor, Small for gestational age, Inability to walk... ORPHA:404454
Multiple Acyl-Coa Dehydrogenase Deficiency
Increased circulating lactate dehydrogenase concentration, Inability to walk, Decreased liver fun... ORPHA:26791
Progressive Multifocal Leukoencephalopathy
Dysmetria, Somatic sensory dysfunction, Abnormal astrocyte morphology, Parkinsonism, Abnormal oli... ORPHA:217260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Abnormal pons morphology, Cerebellar hypoplasia, Lower limb spasticity... OMIM:300868
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Neonatal death, Jaundice OMIM:231680
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Failure to thrive, Elevated hepatic transaminase, Corpus callosum atrophy, Gl... OMIM:261515
Cockayne Syndrome
Cerebral atrophy, Cerebellar atrophy, Action tremor, Somatic sensory dysfunction, Intention tremo... ORPHA:191
Papillorenal Syndrome
Gliosis, Chiari type I malformation OMIM:120330
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Failure to thrive in infancy, Small for gestational age, Stereotypical hand wringing, Ataxia, Cer... ORPHA:268261
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis, Failure to thrive OMIM:617403
Gabriele-De Vries Syndrome
Gliosis, Waddling gait, Small for gestational age, Tremor ORPHA:506358
Diets-Jongmans Syndrome
Gliosis OMIM:618846

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.

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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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