Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

inositol 1,4,5-triphosphate receptor 2
Ip3r2,  Itpr5

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Itpr2 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.

The table below shows human diseases associated to Itpr2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Anhidrosis, Isolated, With Normal Sweat Glands
Generalized anhidrosis, Anhidrosis OMIM:106190

The table below shows human diseases predicted to be associated to Itpr2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Aplasia Of Extensor Muscles Of Fingers, Unilateral, With Generalized Polyneuropathy
Hypohidrosis OMIM:207740
Hyperhidrosis Palmaris Et Plantaris
Palmoplantar hyperhidrosis OMIM:144110
Granulosis Rubra Nasi
Hyperhidrosis OMIM:139000
Hyperhidrosis, Gustatory
Hyperhidrosis OMIM:144100
Palmoplantar Keratoderma, Nagashima Type
Hyperhidrosis ORPHA:140966
Marsili Syndrome
Hypohidrosis OMIM:147430
Keratosis Palmaris Et Plantaris-Clinodactyly Syndrome
Hyperhidrosis ORPHA:86919
Buerger Disease
Hyperhidrosis OMIM:211480
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Hypohidrosis OMIM:605827
Shaheen Syndrome
Hypohidrosis OMIM:615328
Hypohidrosis With Abnormal Palmar Dermal Ridges
Hypohidrosis OMIM:241120
Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis
Hypohidrosis OMIM:618180
Naegeli-Franceschetti-Jadassohn Syndrome
Hypohidrosis OMIM:161000
Keratolytic Winter Erythema
Hyperhidrosis ORPHA:50943
Anhidrosis, Isolated, With Normal Sweat Glands
Generalized anhidrosis, Anhidrosis OMIM:106190
Dermatopathia Pigmentosa Reticularis
Hypohidrosis, Hypohidrosis or hyperhidrosis OMIM:125595
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Hyperhidrosis OMIM:600419
Absence Of Fingerprints-Congenital Milia Syndrome
Hypohidrosis ORPHA:1658
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Hypohidrosis ORPHA:1484
Van Den Bosch Syndrome
Anhidrosis OMIM:314500
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hypohidrosis OMIM:616488
Recessive X-Linked Ichthyosis
Hypohidrosis ORPHA:461
Indifference To Pain, Congenital, Autosomal Recessive
Hypohidrosis, Anhidrosis OMIM:243000
Cluster Headache, Familial
Hyperhidrosis OMIM:119915
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis ORPHA:248
Spinocerebellar Ataxia Type 34
Hypohidrosis ORPHA:1955
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Hypohidrosis OMIM:618535
Digital Extensor Muscle Aplasia-Polyneuropathy
Hypohidrosis ORPHA:2926
Mal De Meleda
Hyperhidrosis OMIM:248300
Ectodermal Dysplasia With Adrenal Cyst
Hypohidrosis OMIM:129550
Hypothyroidism, Hypohidrosis OMIM:255900
Basan Syndrome
Palmoplantar hypohidrosis OMIM:129200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hypohidrosis OMIM:615704
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Hyperhidrosis ORPHA:2400
Ichthyosis, Congenital, Autosomal Recessive 3
Hypohidrosis, Anhidrosis OMIM:606545
Isaacs Syndrome
Hyperhidrosis ORPHA:84142
X-Linked Hypohidrotic Ectodermal Dysplasia
Anterior hypopituitarism, Hypohidrosis ORPHA:181
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis ORPHA:363523
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Hypohidrosis ORPHA:1810
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Hypohidrosis OMIM:129490
Ameloonychohypohidrotic Syndrome
Hypohidrosis OMIM:104570
Rosselli-Gulienetti Syndrome
Hypohidrosis OMIM:225000
Hypohidrosis ORPHA:1660
Erythrokeratodermia Variabilis Et Progressiva 7
Anhidrosis OMIM:619209
Crisponi Syndrome
Hypohidrosis, Hyperhidrosis ORPHA:1545
Focal Palmoplantar And Gingival Keratoderma
Hyperhidrosis ORPHA:2200
Dermotrichic Syndrome
Hypohidrosis ORPHA:99688
Böök Syndrome
Hyperhidrosis ORPHA:1262
Buerger Disease
Hyperhidrosis ORPHA:36258
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Hyperhidrosis OMIM:615548
Ichthyosis, Congenital, Autosomal Recessive 11
Hypohidrosis OMIM:602400
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypohidrosis OMIM:617337
Amelocerebrohypohidrotic Syndrome
Hypohidrosis ORPHA:1946
Immunodeficiency 10
Hypohidrosis OMIM:612783
Congenital Non-Bullous Ichthyosiform Erythroderma
Hypohidrosis ORPHA:79394
Late-Onset Junctional Epidermolysis Bullosa
Hyperhidrosis ORPHA:79406
Syndromic Recessive X-Linked Ichthyosis
Hypohidrosis ORPHA:281090
Ichthyosis, Congenital, Autosomal Recessive 9
Hypohidrosis OMIM:615023
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypohidrosis, Anhidrosis OMIM:224900
Bazex Syndrome
Hypohidrosis OMIM:301845
Limb-Mammary Syndrome
Hypohidrosis OMIM:603543
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Anhidrosis OMIM:614979
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypoparathyroidism, Hypohidrosis ORPHA:1563
Laron Syndrome
Hypohidrosis ORPHA:633
Mal De Meleda
Hyperhidrosis ORPHA:87503
Amelo-Onycho-Hypohidrotic Syndrome
Hypohidrosis ORPHA:1028
Tetrasomy 12P
Hypohidrosis ORPHA:884
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Hypohidrosis ORPHA:452
Helix Syndrome
Hyperparathyroidism, Xerostomia, Hypohidrosis, Anhidrosis OMIM:617671
Ichthyosis, Congenital, Autosomal Recessive 2
Hypohidrosis, Anhidrosis OMIM:242100
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Hyperhidrosis OMIM:137200
Crisponi/Cold-Induced Sweating Syndrome 2
Hyperhidrosis OMIM:610313
Diencephalic Syndrome
Hyperhidrosis ORPHA:1672
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis ORPHA:86893
Bathing Suit Ichthyosis
Hypohidrosis ORPHA:100976
Ectodermal Dysplasia And Immunodeficiency 2
Hypohidrosis, Anhidrosis OMIM:612132
Epidermolytic Palmoplantar Keratoderma
Hyperhidrosis ORPHA:2199
Ichthyosis, Congenital, Autosomal Recessive 6
Hypohidrosis OMIM:612281
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Episodic hyperhidrosis OMIM:613115
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis OMIM:613576
Frontonasal Dysplasia 2
Hypohidrosis OMIM:613451
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hyperhidrosis ORPHA:231147
Lelis Syndrome
Hypohidrosis ORPHA:140936
Neuropathy, Hereditary Sensory And Autonomic, Type V
Anhidrosis OMIM:608654
Johnson Neuroectodermal Syndrome
Hypohidrosis ORPHA:2316
Johnson Neuroectodermal Syndrome
Hypohidrosis OMIM:147770
Odontoonychodermal Dysplasia
Palmoplantar hyperhidrosis, Hypohidrosis, Hyperhidrosis OMIM:257980
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Hypohidrosis OMIM:600906
Hodgkin Lymphoma
Hyperhidrosis ORPHA:98293
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Decreased sweating due to autonomic dysfunction OMIM:169500
Congenital Disorder Of Glycosylation, Type Iil
Hypohidrosis OMIM:614576
Ectodermal Dysplasia/Skin Fragility Syndrome
Anhidrosis OMIM:604536
Motor Neuropathy, Peripheral, With Dysautonomia
Hyperhidrosis OMIM:252320
Localized Epidermolysis Bullosa Simplex
Hyperhidrosis ORPHA:79400
Graves Disease, Susceptibility To, 1
Graves disease, Hyperhidrosis OMIM:275000
Naegeli-Franceschetti-Jadassohn Syndrome
Hypohidrosis, Anhidrosis ORPHA:69087
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Hyperhidrosis ORPHA:276608
Ectodermal Dysplasia-Blindness Syndrome
Hypohidrosis ORPHA:1806
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hypohidrosis ORPHA:363528
Lambert-Eaton Myasthenic Syndrome
Xerostomia, Hypohidrosis ORPHA:43393
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hypohidrosis OMIM:301220
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperhidrosis ORPHA:970
Sandhoff Disease
Hypohidrosis, Hyperhidrosis OMIM:268800
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Hyperhidrosis ORPHA:2151
Multiple System Atrophy 1, Susceptibility To
Hypohidrosis, Anhidrosis OMIM:146500
Silver-Russell Syndrome 2
Hyperhidrosis OMIM:618905
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis ORPHA:279947
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hypohidrosis ORPHA:1005
Spontaneous Periodic Hypothermia
Hyperhidrosis ORPHA:29822
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hyperhidrosis OMIM:148700
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Hypohidrosis OMIM:616866
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hyperhidrosis ORPHA:231140
Erythermalgia, Primary
Xerostomia, Hyperhidrosis OMIM:133020
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1812
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypohidrosis OMIM:308205
Anhidrosis, Familial Generalized, With Abnormal Or Absent Sweat Glands
Anhidrosis OMIM:206600
Septo-Optic Dysplasia Spectrum
Hypohidrosis ORPHA:3157
Hereditary Sensory And Autonomic Neuropathy Type 5
Anhidrosis ORPHA:64752
Fabry Disease
Hypohidrosis OMIM:301500
Naxos Disease
Hyperhidrosis ORPHA:34217
Rapp-Hodgkin Syndrome
Hypohidrosis OMIM:129400
Familial Dysautonomia
Hypohidrosis, Hyperhidrosis ORPHA:1764
Olmsted Syndrome 1
Hyperhidrosis OMIM:614594
Familial Cold Urticaria
Hyperhidrosis ORPHA:47045
Phelan-Mcdermid Syndrome
Hypohidrosis OMIM:606232
Thymic Carcinoma
Hyperhidrosis ORPHA:99868
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypohidrosis ORPHA:3253
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypohidrosis OMIM:300749
Tooth Agenesis, Selective, 3
Anhidrosis OMIM:604625
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Hypohidrosis ORPHA:238468
Marshall Syndrome
Hypohidrosis ORPHA:560
Alacrima, Achalasia, And Mental Retardation Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hypohidrosis OMIM:148210
Sunct Syndrome
Episodic hyperhidrosis, Hyperhidrosis ORPHA:57145
Chondroectodermal Dysplasia With Night Blindness
Hyperhidrosis ORPHA:319195
Microcephalic Primordial Dwarfism, Montreal Type
Hyperhidrosis ORPHA:2617
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Anhidrosis OMIM:608720
Arthrogryposis And Ectodermal Dysplasia
Hypohidrosis OMIM:601701
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Episodic hyperhidrosis, Anhidrosis OMIM:201300
Hypohidrosis ORPHA:801
Parkinsonism-Dystonia 2, Infantile-Onset
Hyperhidrosis OMIM:618049
Tufted Angioma
Hyperhidrosis ORPHA:1063
Stiff Person Spectrum Disorder
Hypothyroidism, Hyperhidrosis ORPHA:3198
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hyperhidrosis ORPHA:231137
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperhidrosis OMIM:614441
Cockayne Syndrome Type 1
Hypohidrosis ORPHA:90321
Hyperhidrosis ORPHA:108
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis ORPHA:1332
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Episodic hyperhidrosis, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia ORPHA:276575
Anhidrosis ORPHA:137817
Cardiofaciocutaneous Syndrome 3
Hyperhidrosis OMIM:615279
Hyperinsulinism Due To Ucp2 Deficiency
Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia ORPHA:276556
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Hyperhidrosis OMIM:118230
Deeah Syndrome
Exocrine pancreatic insufficiency, Hypohidrosis, Panhypopituitarism, Decreased circulating free T... OMIM:619004
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Hyperhidrosis ORPHA:70594
Episodic Ataxia Type 1
Hyperhidrosis ORPHA:37612
Chand Syndrome
Hypohidrosis ORPHA:1401
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrosis, Anhidrosis OMIM:305100
Paragangliomas 3
Hyperhidrosis OMIM:605373
Classic Hodgkin Lymphoma
Hyperhidrosis ORPHA:391
Systemic Sclerosis
Hypohidrosis ORPHA:90291
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia ORPHA:276580
Chromosome Xq26.3 Duplication Syndrome
Hypopituitarism, Elevated circulating growth hormone concentration, Increased circulating prolact... OMIM:300942
Eec Syndrome
Decreased response to growth hormone stimulation test, Hypohidrosis, Anterior hypopituitarism, Xe... ORPHA:1896
Dopa-Responsive Dystonia
Hyperhidrosis ORPHA:255
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperhidrosis OMIM:245400
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Anhidrosis OMIM:613640
Pheochromocytoma--Islet Cell Tumor Syndrome
Hyperhidrosis OMIM:171420
Bjornstad Syndrome
Anhidrosis OMIM:262000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypohidrosis OMIM:609136
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis OMIM:614940
Adult-Onset Autosomal Dominant Leukodystrophy
Decreased sweating due to autonomic dysfunction, Anhidrosis ORPHA:99027
Pure Autonomic Failure
Anhidrosis ORPHA:441
Juvenile Neuronal Ceroid Lipofuscinosis
Hyperhidrosis ORPHA:79264
Fatal Familial Insomnia
Hyperhidrosis OMIM:600072
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Hyperhidrosis OMIM:609541
Scalp-Ear-Nipple Syndrome
Hypohidrosis ORPHA:2036
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Hyperhidrosis OMIM:619173
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypohidrosis ORPHA:163746
Pituitary Gigantism
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:99725
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hyperhidrosis OMIM:167100
Kid Syndrome
Hypohidrosis ORPHA:477
Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Hyperhidrosis ORPHA:97279
Paragangliomas 1
Hyperhidrosis OMIM:168000
Takayasu Arteritis
Hyperhidrosis ORPHA:3287
Hyperinsulinism Due To Hnf1A Deficiency
Episodic hyperhidrosis ORPHA:324575
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypohidrosis ORPHA:1071
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Hyperhidrosis ORPHA:320406
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Hyperhidrosis OMIM:604320
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Hyperhidrosis OMIM:118301
Stüve-Wiedemann Syndrome
Hypothyroidism, Hypohidrosis, Hyperhidrosis ORPHA:3206
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Hyperhidrosis OMIM:615280
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Hypohidrosis, Central hypothyroidism, Increased circulating prolactin co... ORPHA:293987
Tyrosinemia Type 2
Hyperhidrosis ORPHA:28378
Limb-Mammary Syndrome
Hypohidrosis ORPHA:69085
Fabry Disease
Hypohidrosis ORPHA:324
Brain Dopamine-Serotonin Vesicular Transport Disease
Hyperhidrosis ORPHA:352649
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Primary hypothyroidism, Hypohidrosis OMIM:219800
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Increased circulating free T3, Graves disease, Increased circ... ORPHA:525731
Adrenocorticotropic hormone excess, Abnormal prolactin level, Elevated circulating growth hormone... ORPHA:251937
Scrub Typhus
Hyperhidrosis ORPHA:83317
Anterior Cutaneous Nerve Entrapment Syndrome
Hyperhidrosis ORPHA:51890
Hyperinsulinism Due To Hnf4A Deficiency
Pancreatic islet-cell hyperplasia, Hyperhidrosis ORPHA:263455
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hyperhidrosis ORPHA:324442
Noonan Syndrome 7
Hyperhidrosis OMIM:613706
Ullrich Congenital Muscular Dystrophy 1
Hyperhidrosis OMIM:254090
Hypothyroidism, Hyperhidrosis ORPHA:349
Non-Functioning Paraganglioma
Episodic hyperhidrosis ORPHA:94080
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Elevated serum 11-deoxycortisol, Hyperaldosteronism, Incr... ORPHA:1501
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar hyperhidrosis, Anhidrosis ORPHA:659
Ectodermal Dysplasia-Skin Fragility Syndrome
Hypohidrosis ORPHA:158668
Hypohidrosis ORPHA:548
Stiff-Person Syndrome
Hyperhidrosis OMIM:184850
Crisponi/Cold-Induced Sweating Syndrome 1
Hyperhidrosis OMIM:272430
Hypermanganesemia With Dystonia 2
Hyperhidrosis OMIM:617013
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hyperhidrosis OMIM:614653
Monosomy 22Q13.3
Hypohidrosis ORPHA:48652
Pachyonychia Congenita 3
Hyperhidrosis OMIM:615726
Congenitally Uncorrected Transposition Of The Great Arteries
Hyperhidrosis ORPHA:860
X-Linked Acrogigantism
Hypopituitarism, Elevated circulating growth hormone concentration, Increased circulating prolact... ORPHA:300373
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hypohidrosis ORPHA:2273
Familial Tumoral Calcinosis
Hyperhidrosis ORPHA:53715
Serotonin Syndrome
Hyperhidrosis ORPHA:43116
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Hyperhidrosis OMIM:259100
Hyperhidrosis OMIM:171300
Noonan Syndrome 14
Hyperhidrosis OMIM:619745
X-Linked Intellectual Disability, Cabezas Type
Hyperhidrosis ORPHA:85293
Silver-Russell Syndrome
Hyperhidrosis ORPHA:813
Combined Immunodeficiency Due To Crac Channel Dysfunction
Anhidrosis ORPHA:169090
Aromatic L-Amino Acid Decarboxylase Deficiency
Hyperhidrosis OMIM:608643
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse goiter, Graves disease... ORPHA:79102
Familial Thrombocytosis
Hyperhidrosis ORPHA:71493
Paragangliomas 4
Hyperhidrosis OMIM:115310
Giant Cell Arteritis
Hyperhidrosis ORPHA:397
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Xerostomia, Anhidrosis OMIM:614941
Cardiofaciocutaneous Syndrome 1
Hyperhidrosis OMIM:115150
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis ORPHA:251004
Insensitivity To Pain, Congenital, With Anhidrosis
Anhidrosis OMIM:256800
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Thyroid crisis, Hyperthyroidism, Central adrenal insufficiency, Elev... ORPHA:91347
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic hyperhidrosis ORPHA:276621
Malt Lymphoma
Hyperhidrosis ORPHA:52417
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Central Hypoventilation Syndrome, Congenital, 1
Hyperhidrosis OMIM:209880
Plaa-Associated Neurodevelopmental Disorder
Hyperhidrosis ORPHA:521426
Congenital Disorder Of Deglycosylation 1
Anhidrosis, Hyperhidrosis OMIM:615273
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Anhidrosis OMIM:106260
Alexander Disease
Hypothyroidism, Hyperhidrosis ORPHA:58
Acute Intermittent Porphyria
Hyperhidrosis ORPHA:79276
Complete Atrioventricular Septal Defect
Hyperhidrosis ORPHA:1329
Lujo Hemorrhagic Fever
Hyperhidrosis ORPHA:319213
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Hyperhidrosis ORPHA:96182
Anhidrosis OMIM:230000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis OMIM:223900
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Hyperhidrosis OMIM:161700
Monosomy 22
Hyperhidrosis ORPHA:96123
Hereditary Fructose Intolerance
Episodic hyperhidrosis ORPHA:469
Incontinentia Pigmenti
Hyperhidrosis ORPHA:464
Apert Syndrome
Hyperhidrosis OMIM:101200
Alternating Hemiplegia Of Childhood
Hyperhidrosis ORPHA:2131
Pallister-Killian Syndrome
Hypohidrosis, Anhidrosis OMIM:601803
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis ORPHA:29072
Erdheim-Chester Disease
Hyperhidrosis ORPHA:35687
Neuroleptic Malignant Syndrome
Hyperhidrosis ORPHA:94093
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypothyroidism, Hyperhidrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypothyroidism, Hyperhidrosis ORPHA:352665
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hyperhidrosis ORPHA:17
Kasabach-Merritt Syndrome
Hyperhidrosis ORPHA:2330
Congenital Ptosis
Anhidrosis ORPHA:91411
Cocaine Intoxication
Hyperhidrosis ORPHA:90068
Multiple Endocrine Neoplasia Type 2
Primary hyperparathyroidism, Hyperhidrosis ORPHA:653
Dyskeratosis Congenita
Hyperhidrosis ORPHA:1775
Gitelman Syndrome
Hashimoto thyroiditis, Graves disease, Primary hyperaldosteronism, Hyperhidrosis ORPHA:358
Anterior hypopituitarism, Elevated circulating growth hormone concentration, Increased circulatin... ORPHA:314769
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Hyperhidrosis ORPHA:892
Scorpion Envenomation
Acute pancreatitis, Hyperhidrosis ORPHA:466677
Hemorrhagic Fever-Renal Syndrome
Hyperhidrosis ORPHA:340
Anterior hypopituitarism, Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:963
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Acute pancreatitis, Orchitis, Parotitis, Hyperhidrosis ORPHA:99827
Hyperhidrosis, Orchitis ORPHA:1304
Osteogenesis Imperfecta
Hyperhidrosis ORPHA:666
Dyskeratosis Congenita, X-Linked
Hyperhidrosis OMIM:305000
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Hyperhidrosis ORPHA:642
Cockayne Syndrome B
Anhidrosis OMIM:133540
Cockayne Syndrome A
Anhidrosis OMIM:216400
Cockayne Syndrome
Anhidrosis ORPHA:191
Exercise-Induced Malignant Hyperthermia
Anhidrosis ORPHA:466650


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 Itpr2

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 Itpr2.

No publications found that use IMPC mice or data for Itpr2.

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MGI Allele Allele Type Produced
Itpr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itpr2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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