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 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
Hypohidrosis With Abnormal Palmar Dermal Ridges
Hypohidrosis OMIM:241120
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Hypohidrosis OMIM:605827
Shaheen Syndrome
Hypohidrosis OMIM:615328
Keratolytic Winter Erythema
Hyperhidrosis ORPHA:50943
Naegeli-Franceschetti-Jadassohn Syndrome
Hypohidrosis OMIM:161000
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
Ectodermal Dysplasia 14, Hair/Tooth Type, With Or Without Hypohidrosis
Hypohidrosis OMIM:618180
Ichthyosis, X-Linked
Hypohidrosis OMIM:308100
Van Den Bosch Syndrome
Anhidrosis OMIM:314500
Recessive X-Linked Ichthyosis
Hypohidrosis ORPHA:461
Dermatopathia Pigmentosa Reticularis
Hypohidrosis OMIM:125595
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis ORPHA:248
Spinocerebellar Ataxia Type 34
Hypohidrosis ORPHA:1955
Digital Extensor Muscle Aplasia-Polyneuropathy
Hypohidrosis ORPHA:2926
Cluster Headache, Familial
Hyperhidrosis OMIM:119915
Mal De Meleda
Hyperhidrosis OMIM:248300
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Hypohidrosis OMIM:600906
Ectodermal Dysplasia With Adrenal Cyst
Hypohidrosis OMIM:129550
Basan Syndrome
Palmoplantar hypohidrosis OMIM:129200
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Hyperhidrosis ORPHA:2400
Isaacs Syndrome
Hyperhidrosis ORPHA:84142
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Hypohidrosis OMIM:129490
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Ichthyosis, Congenital, Autosomal Recessive 3
Hypohidrosis, Anhidrosis OMIM:606545
X-Linked Hypohidrotic Ectodermal Dysplasia
Anterior hypopituitarism, Hypohidrosis ORPHA:181
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Hypohidrosis ORPHA:1810
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Hyperhidrosis OMIM:137200
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis ORPHA:363523
Ameloonychohypohidrotic Syndrome
Hypohidrosis OMIM:104570
Hypohidrosis ORPHA:1660
Crisponi Syndrome
Hyperhidrosis, Hypohidrosis ORPHA:1545
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Hyperhidrosis OMIM:615548
Focal Palmoplantar And Gingival Keratoderma
Hyperhidrosis ORPHA:2200
Erythrokeratodermia Variabilis Et Progressiva 7
Anhidrosis OMIM:619209
Indifference To Pain, Congenital, Autosomal Recessive
Hypohidrosis, Anhidrosis OMIM:243000
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hypohidrosis OMIM:615704
Böök Syndrome
Hyperhidrosis ORPHA:1262
Buerger Disease
Hyperhidrosis ORPHA:36258
Dermotrichic Syndrome
Hypohidrosis ORPHA:99688
Amelocerebrohypohidrotic Syndrome
Hypohidrosis ORPHA:1946
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Hypohidrosis, Anhidrosis OMIM:614940
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Hypohidrosis OMIM:618535
Congenital Non-Bullous Ichthyosiform Erythroderma
Hypohidrosis ORPHA:79394
Immunodeficiency 10
Hypohidrosis OMIM:612783
Syndromic Recessive X-Linked Ichthyosis
Hypohidrosis ORPHA:281090
Ichthyosis, Congenital, Autosomal Recessive 9
Hypohidrosis OMIM:615023
Limb-Mammary Syndrome
Hypohidrosis OMIM:603543
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypohidrosis, Hypoparathyroidism ORPHA:1563
Laron Syndrome
Hypohidrosis ORPHA:633
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypohidrosis, Anhidrosis OMIM:224900
Bazex Syndrome
Hypohidrosis OMIM:301845
X-Linked Lissencephaly With Abnormal Genitalia
Exocrine pancreatic insufficiency, Hypohidrosis ORPHA:452
Mal De Meleda
Hyperhidrosis ORPHA:87503
Amelo-Onycho-Hypohidrotic Syndrome
Hypohidrosis ORPHA:1028
Tetrasomy 12P
Hypohidrosis ORPHA:884
Helix Syndrome
Xerostomia, Hypohidrosis, Anhidrosis, Hyperparathyroidism OMIM:617671
Ichthyosis, Congenital, Autosomal Recessive 11
Hypohidrosis OMIM:602400
Diencephalic Syndrome
Hyperhidrosis ORPHA:1672
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis ORPHA:86893
Ichthyosis, Congenital, Autosomal Recessive 2
Hypohidrosis, Anhidrosis OMIM:242100
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hypohidrosis OMIM:616488
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
Bathing Suit Ichthyosis
Hypohidrosis ORPHA:100976
Isolated Congenital Digital Clubbing
Hyperhidrosis ORPHA:217059
Lelis Syndrome
Hypohidrosis ORPHA:140936
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hyperhidrosis ORPHA:231147
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Hypohidrosis OMIM:617337
Neuropathy, Hereditary Sensory And Autonomic, Type V
Anhidrosis OMIM:608654
Johnson Neuroectodermal Syndrome
Hypohidrosis ORPHA:2316
Johnson Neuroectodermal Syndrome
Hypohidrosis OMIM:147770
Hodgkin Lymphoma
Hyperhidrosis ORPHA:98293
Graves Disease, Susceptibility To, 1
Hyperhidrosis, Increased circulating free T4 concentration, Graves disease, Increased circulating... OMIM:275000
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Decreased sweating due to autonomic dysfunction OMIM:169500
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Anhidrosis OMIM:614979
Congenital Disorder Of Glycosylation, Type Iil
Hypohidrosis OMIM:614576
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Hypohidrosis, Decreased response to growth hormone stimulation test ORPHA:363528
Naegeli-Franceschetti-Jadassohn Syndrome
Hypohidrosis, Anhidrosis ORPHA:69087
Sandhoff Disease
Hyperhidrosis, Hypohidrosis OMIM:268800
Ectodermal Dysplasia-Blindness Syndrome
Hypohidrosis ORPHA:1806
Localized Epidermolysis Bullosa Simplex
Hyperhidrosis ORPHA:79400
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Hypohidrosis OMIM:616866
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperhidrosis, Pancreatic islet-cell hyperplasia ORPHA:276608
Lambert-Eaton Myasthenic Syndrome
Hypohidrosis, Xerostomia ORPHA:43393
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperhidrosis ORPHA:970
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hypohidrosis OMIM:301220
Silver-Russell Syndrome 2
Hyperhidrosis OMIM:618905
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Hyperhidrosis ORPHA:2151
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hypohidrosis ORPHA:1005
Spontaneous Periodic Hypothermia
Hyperhidrosis ORPHA:29822
Parkinsonism-Dystonia 2, Infantile-Onset
Hyperhidrosis OMIM:618049
Multiple System Atrophy 1, Susceptibility To
Hypohidrosis, Anhidrosis OMIM:146500
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1812
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hyperhidrosis OMIM:148700
Septo-Optic Dysplasia Spectrum
Hypohidrosis ORPHA:3157
Postorgasmic Illness Syndrome
Hyperhidrosis, Xerostomia ORPHA:279947
Neurodevelopmental Disorder With Dystonia And Seizures
Hyperhidrosis OMIM:619922
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hyperhidrosis ORPHA:231140
Tooth Agenesis, Selective, 4
Palmoplantar hyperhidrosis, Hypohidrosis OMIM:150400
Odontoonychodermal Dysplasia
Hyperhidrosis, Hypohidrosis, Palmoplantar hyperhidrosis OMIM:257980
Erythermalgia, Primary
Hyperhidrosis, Xerostomia OMIM:133020
Fabry Disease
Hypohidrosis OMIM:301500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypohidrosis ORPHA:3253
Naxos Disease
Hyperhidrosis ORPHA:34217
Hereditary Sensory And Autonomic Neuropathy Type 5
Anhidrosis ORPHA:64752
Marshall Syndrome
Hypohidrosis ORPHA:560
Familial Cold Urticaria
Hyperhidrosis ORPHA:47045
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hypohidrosis OMIM:148210
Familial Dysautonomia
Hyperhidrosis, Hypohidrosis ORPHA:1764
Thymic Carcinoma
Hyperhidrosis ORPHA:99868
Phelan-Mcdermid Syndrome
Hypohidrosis OMIM:606232
Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Xerostomia ORPHA:238468
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypohidrosis OMIM:300749
Tooth Agenesis, Selective, 3
Anhidrosis OMIM:604625
Frontonasal Dysplasia 2
Hypohidrosis OMIM:613451
Stiff Person Spectrum Disorder
Hypothyroidism, Hyperhidrosis ORPHA:3198
Ectodermal Dysplasia And Immunodeficiency 2
Hypohidrosis, Anhidrosis OMIM:612132
Chondroectodermal Dysplasia With Night Blindness
Hyperhidrosis ORPHA:319195
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
Microcephalic Primordial Dwarfism, Montreal Type
Hyperhidrosis ORPHA:2617
Hypohidrosis ORPHA:801
Tufted Angioma
Hyperhidrosis ORPHA:1063
Rapp-Hodgkin Syndrome
Hypohidrosis OMIM:129400
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hyperhidrosis ORPHA:231137
Late-Onset Junctional Epidermolysis Bullosa
Hyperhidrosis ORPHA:79406
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Hyperhidrosis ORPHA:70594
Sunct Syndrome
Hyperhidrosis, Episodic hyperhidrosis ORPHA:57145
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperhidrosis OMIM:614441
Arthrogryposis And Ectodermal Dysplasia
Hypohidrosis OMIM:601701
Cockayne Syndrome Type 1
Hypohidrosis ORPHA:90321
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Anhidrosis, Episodic hyperhidrosis OMIM:201300
Hyperhidrosis ORPHA:108
Medullary Thyroid Carcinoma
Hyperhidrosis, Primary hyperparathyroidism ORPHA:1332
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Focal pancreatic islet hyperplasia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia ORPHA:276575
Cardiofaciocutaneous Syndrome 3
Hyperhidrosis OMIM:615279
Anhidrosis ORPHA:137817
Hyperinsulinism Due To Ucp2 Deficiency
Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia ORPHA:276556
Deeah Syndrome
Hypohidrosis, Decreased circulating free T4 concentration, Decreased response to growth hormone s... OMIM:619004
Anhidrosis, Isolated, With Normal Sweat Glands
Generalized anhidrosis OMIM:106190
Classic Hodgkin Lymphoma
Hyperhidrosis ORPHA:391
Episodic Ataxia Type 1
Hyperhidrosis ORPHA:37612
Systemic Sclerosis
Hypohidrosis ORPHA:90291
Paragangliomas 3
Hyperhidrosis OMIM:605373
Chromosome Xq26.3 Duplication Syndrome
Hyperhidrosis, Increased circulating prolactin concentration, Hypopituitarism, Elevated circulati... OMIM:300942
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia ORPHA:276580
Ectodermal Dysplasia/Skin Fragility Syndrome
Anhidrosis OMIM:604536
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrosis, Anhidrosis OMIM:305100
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Hyperhidrosis OMIM:609541
Dopa-Responsive Dystonia
Hyperhidrosis ORPHA:255
Eec Syndrome
Anterior hypopituitarism, Hypohidrosis, Decreased response to growth hormone stimulation test, Xe... ORPHA:1896
Chand Syndrome
Hypohidrosis ORPHA:1401
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Hyperhidrosis ORPHA:320406
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperhidrosis OMIM:245400
Bjornstad Syndrome
Anhidrosis OMIM:262000
Pheochromocytoma--Islet Cell Tumor Syndrome
Hyperhidrosis OMIM:171420
Juvenile Neuronal Ceroid Lipofuscinosis
Hyperhidrosis ORPHA:79264
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Anhidrosis OMIM:613640
Kid Syndrome
Hypohidrosis ORPHA:477
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypohidrosis OMIM:609136
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Hyperhidrosis OMIM:619173
Pure Autonomic Failure
Anhidrosis ORPHA:441
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Decreased sweating due to autonomic dysfunction ORPHA:99027
Pituitary Gigantism
Hyperhidrosis, Increased circulating prolactin concentration, Elevated circulating growth hormone... ORPHA:99725
Scalp-Ear-Nipple Syndrome
Hypohidrosis ORPHA:2036
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hyperhidrosis OMIM:167100
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypohidrosis ORPHA:163746
Hyperhidrosis, Primary hyperparathyroidism, Abnormality of the pancreatic islet cells ORPHA:97279
Takayasu Arteritis
Hyperhidrosis ORPHA:3287
Fatal Familial Insomnia
Hyperhidrosis OMIM:600072
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Hyperhidrosis OMIM:604320
Hyperinsulinism Due To Hnf1A Deficiency
Episodic hyperhidrosis ORPHA:324575
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypohidrosis ORPHA:1071
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hyperhidrosis OMIM:614299
Cardiofaciocutaneous Syndrome 4
Hyperhidrosis, Decreased response to growth hormone stimulation test OMIM:615280
Stüve-Wiedemann Syndrome
Hypothyroidism, Hypohidrosis, Hyperhidrosis ORPHA:3206
Olmsted Syndrome 1
Hyperhidrosis OMIM:614594
Tyrosinemia Type 2
Hyperhidrosis ORPHA:28378
Paragangliomas 1
Hyperhidrosis OMIM:168000
Limb-Mammary Syndrome
Hypohidrosis ORPHA:69085
Fabry Disease
Hypohidrosis ORPHA:324
Brain Dopamine-Serotonin Vesicular Transport Disease
Hyperhidrosis ORPHA:352649
Pediatric-Onset Graves Disease
Hyperhidrosis, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... ORPHA:525731
Scalp-Ear-Nipple Syndrome
Hypohidrosis OMIM:181270
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hypohidrosis, Increased circulating prolactin concentration, Gonadotropin... ORPHA:293987
Anterior Cutaneous Nerve Entrapment Syndrome
Hyperhidrosis ORPHA:51890
Hyperhidrosis, Elevated circulating growth hormone concentration, Adrenocorticotropic hormone exc... ORPHA:251937
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hypohidrosis, Primary hypothyroidism OMIM:219800
Scrub Typhus
Hyperhidrosis ORPHA:83317
Ectodermal Dysplasia-Skin Fragility Syndrome
Hypohidrosis ORPHA:158668
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hyperhidrosis ORPHA:324442
Hyperinsulinism Due To Hnf4A Deficiency
Hyperhidrosis, Pancreatic islet-cell hyperplasia ORPHA:263455
Noonan Syndrome 7
Hyperhidrosis OMIM:613706
Non-Functioning Paraganglioma
Episodic hyperhidrosis ORPHA:94080
Stiff-Person Syndrome
Hyperhidrosis OMIM:184850
Ullrich Congenital Muscular Dystrophy 1
Hyperhidrosis OMIM:254090
Hypothyroidism, Hyperhidrosis ORPHA:349
Crisponi/Cold-Induced Sweating Syndrome 1
Hyperhidrosis OMIM:272430
Adrenocortical Carcinoma
Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol level, Adrenocorticotropic horm... ORPHA:1501
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar hyperhidrosis, Anhidrosis ORPHA:659
Hypermanganesemia With Dystonia 2
Hyperhidrosis OMIM:617013
Hypohidrosis ORPHA:548
Monosomy 22Q13.3
Hypohidrosis ORPHA:48652
Pachyonychia Congenita 3
Hyperhidrosis OMIM:615726
Congenitally Uncorrected Transposition Of The Great Arteries
Hyperhidrosis ORPHA:860
Trichorhinophalangeal Syndrome, Type Ii
Hyperhidrosis, Hypohidrosis OMIM:150230
X-Linked Acrogigantism
Hyperhidrosis, Increased circulating prolactin concentration, Hypopituitarism, Elevated circulati... ORPHA:300373
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hypohidrosis ORPHA:2273
Hyperhidrosis OMIM:171300
Familial Tumoral Calcinosis
Hyperhidrosis ORPHA:53715
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Hyperhidrosis OMIM:259100
Noonan Syndrome 14
Hyperhidrosis OMIM:619745
Silver-Russell Syndrome
Hyperhidrosis ORPHA:813
Serotonin Syndrome
Hyperhidrosis ORPHA:43116
X-Linked Intellectual Disability, Cabezas Type
Hyperhidrosis ORPHA:85293
Aromatic L-Amino Acid Decarboxylase Deficiency
Hyperhidrosis OMIM:608643
Combined Immunodeficiency Due To Crac Channel Dysfunction
Anhidrosis ORPHA:169090
Familial Thrombocytosis
Hyperhidrosis ORPHA:71493
Paragangliomas 4
Hyperhidrosis OMIM:115310
Thyrotoxic Periodic Paralysis
Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... ORPHA:79102
Giant Cell Arteritis
Hyperhidrosis ORPHA:397
Phakomatosis Pigmentokeratotica
Hyperhidrosis ORPHA:2874
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypohidrosis OMIM:308205
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Xerostomia OMIM:614941
Insensitivity To Pain, Congenital, With Anhidrosis
Anhidrosis OMIM:256800
Cardiofaciocutaneous Syndrome 1
Hyperhidrosis OMIM:115150
Plaa-Associated Neurodevelopmental Disorder
Hyperhidrosis ORPHA:521426
Tsh-Secreting Pituitary Adenoma
Hyperhidrosis, Increased circulating prolactin concentration, Hyperthyroidism, Thyroid crisis, Ad... ORPHA:91347
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis ORPHA:251004
Malt Lymphoma
Hyperhidrosis ORPHA:52417
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic hyperhidrosis ORPHA:276621
Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Central Hypoventilation Syndrome, Congenital, 1
Hyperhidrosis OMIM:209880
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hyperhidrosis OMIM:614653
Lujo Hemorrhagic Fever
Hyperhidrosis ORPHA:319213
Alexander Disease
Hypothyroidism, Hyperhidrosis ORPHA:58
Complete Atrioventricular Septal Defect
Hyperhidrosis ORPHA:1329
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hyperhidrosis, Decreased response to growth hormone stimulation test ORPHA:96182
Stuve-Wiedemann Syndrome 1
Hyperhidrosis OMIM:601559
Acute Intermittent Porphyria
Hyperhidrosis ORPHA:79276
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
Apert Syndrome
Hyperhidrosis OMIM:101200
Incontinentia Pigmenti
Hyperhidrosis ORPHA:464
Hereditary Fructose Intolerance
Episodic hyperhidrosis ORPHA:469
Alternating Hemiplegia Of Childhood
Hyperhidrosis ORPHA:2131
Anhidrosis OMIM:230000
Erdheim-Chester Disease
Hyperhidrosis ORPHA:35687
Congenital Disorder Of Deglycosylation 1
Hyperhidrosis, Anhidrosis OMIM:615273
Kasabach-Merritt Syndrome
Hyperhidrosis ORPHA:2330
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis ORPHA:29072
Pallister-Killian Syndrome
Anhidrosis, Hypohidrosis OMIM:601803
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hyperhidrosis ORPHA:17
Neuroleptic Malignant Syndrome
Hyperhidrosis ORPHA:94093
Congenital Ptosis
Anhidrosis ORPHA:91411
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hyperhidrosis, Hypothyroidism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hyperhidrosis, Hypothyroidism ORPHA:352665
Dyskeratosis Congenita
Hyperhidrosis ORPHA:1775
Cocaine Intoxication
Hyperhidrosis ORPHA:90068
Multiple Endocrine Neoplasia Type 2
Hyperhidrosis, Primary hyperparathyroidism ORPHA:653
Gitelman Syndrome
Graves disease, Hashimoto thyroiditis, Primary hyperaldosteronism, Hyperhidrosis ORPHA:358
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis OMIM:617799
Hemorrhagic Fever-Renal Syndrome
Hyperhidrosis ORPHA:340
Von Hippel-Lindau Disease
Hyperhidrosis, Pancreatic islet cell adenoma ORPHA:892
Scorpion Envenomation
Hyperhidrosis, Acute pancreatitis ORPHA:466677
Anterior hypopituitarism, Hyperhidrosis, Increased circulating prolactin concentration, Elevated ... ORPHA:314769
Crimean-Congo Hemorrhagic Fever
Hyperhidrosis, Adrenal insufficiency, Acute pancreatitis, Parotitis, Orchitis ORPHA:99827
Anterior hypopituitarism, Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:963
Hyperhidrosis, Orchitis ORPHA:1304
Osteogenesis Imperfecta
Hyperhidrosis ORPHA:666
Dyskeratosis Congenita, X-Linked
Hyperhidrosis OMIM:305000
Cockayne Syndrome B
Anhidrosis OMIM:133540
Cockayne Syndrome A
Anhidrosis OMIM:216400
Hereditary Sensory And Autonomic Neuropathy Type 4
Hyperhidrosis, Anhidrosis ORPHA:642
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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