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Gene: Itpr2 MGI:99418

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inositol 1,4,5-triphosphate receptor 2
Synonyms:
Ip3r2,  Itpr5

Order Alleles

IMPC Data Collections

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

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.

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
phenotypes		 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
phenotypes		 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
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Hypohidrosis ORPHA:1484
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Hyperhidrosis OMIM:600419
Absence Of Fingerprints-Congenital Milia Syndrome
Hypohidrosis ORPHA:1658
Ectodermal Dysplasia 14, Hair/Tooth Type, With Or Without Hypohidrosis
Hypohidrosis OMIM:618180
Van Den Bosch Syndrome
Anhidrosis OMIM:314500
Recessive X-Linked Ichthyosis
Hypohidrosis ORPHA:461
Ichthyosis, X-Linked
Hypohidrosis OMIM:308100
Dermatopathia Pigmentosa Reticularis
Hypohidrosis OMIM:125595
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis ORPHA:248
Digital Extensor Muscle Aplasia-Polyneuropathy
Hypohidrosis ORPHA:2926
Spinocerebellar Ataxia Type 34
Hypohidrosis ORPHA:1955
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
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Isaacs Syndrome
Hyperhidrosis ORPHA:84142
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Hypohidrosis OMIM:129490
Ichthyosis, Congenital, Autosomal Recessive 3
Anhidrosis, Hypohidrosis OMIM:606545
X-Linked Hypohidrotic Ectodermal Dysplasia
Anterior hypopituitarism, Hypohidrosis ORPHA:181
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis ORPHA:363523
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Hypohidrosis ORPHA:1810
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Hyperhidrosis OMIM:137200
Ameloonychohypohidrotic Syndrome
Hypohidrosis OMIM:104570
Dermoodontodysplasia
Hypohidrosis ORPHA:1660
Crisponi Syndrome
Hypohidrosis, Hyperhidrosis ORPHA:1545
Erythrokeratodermia Variabilis Et Progressiva 7
Anhidrosis OMIM:619209
Indifference To Pain, Congenital, Autosomal Recessive
Anhidrosis, Hypohidrosis OMIM:243000
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Hyperhidrosis OMIM:615548
Focal Palmoplantar And Gingival Keratoderma
Hyperhidrosis ORPHA:2200
Buerger Disease
Hyperhidrosis ORPHA:36258
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hypohidrosis OMIM:615704
Böök Syndrome
Hyperhidrosis ORPHA:1262
Dermotrichic Syndrome
Hypohidrosis ORPHA:99688
Amelocerebrohypohidrotic Syndrome
Hypohidrosis ORPHA:1946
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Hypohidrosis OMIM:614940
Congenital Ichthyosiform Erythroderma
Hypohidrosis ORPHA:79394
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Hypohidrosis OMIM:618535
Ichthyosis, Congenital, Autosomal Recessive 9
Hypohidrosis OMIM:615023
Immunodeficiency 10
Hypohidrosis OMIM:612783
Syndromic Recessive X-Linked Ichthyosis
Hypohidrosis ORPHA:281090
Limb-Mammary Syndrome
Hypohidrosis OMIM:603543
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Hypohidrosis ORPHA:1563
Laron Syndrome
Hypohidrosis ORPHA:633
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Hypohidrosis OMIM:224900
Bazex-Dupre-Christol Syndrome
Hypohidrosis OMIM:301845
X-Linked Lissencephaly With Abnormal Genitalia
Hypohidrosis, Exocrine pancreatic insufficiency ORPHA:452
Mal De Meleda
Hyperhidrosis ORPHA:87503
Amelo-Onycho-Hypohidrotic Syndrome
Hypohidrosis ORPHA:1028
Tetrasomy 12P
Hypohidrosis ORPHA:884
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis OMIM:617671
Ichthyosis, Congenital, Autosomal Recessive 11
Hypohidrosis OMIM:602400
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Hypohidrosis OMIM:242100
Ichthyosis, Congenital, Autosomal Recessive 6
Hypohidrosis OMIM:612281
Diencephalic Syndrome
Hyperhidrosis ORPHA:1672
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hypohidrosis OMIM:616488
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis ORPHA:86893
Epidermolytic Palmoplantar Keratoderma
Hyperhidrosis ORPHA:2199
Bathing Suit Ichthyosis
Hypohidrosis ORPHA:100976
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis OMIM:613576
Isolated Congenital Digital Clubbing
Hyperhidrosis ORPHA:217059
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Hypohidrosis ORPHA:98813
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Episodic hyperhidrosis OMIM:613115
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
Johnson Neuroectodermal Syndrome
Hypohidrosis ORPHA:2316
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
Graves Disease, Susceptibility To, 1
Graves disease, Increased circulating free T3, Increased circulating free T4 concentration, Hyper... OMIM:275000
Congenital Disorder Of Glycosylation, Type Iil
Hypohidrosis OMIM:614576
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hypohidrosis ORPHA:363528
Sandhoff Disease
Hypohidrosis, Hyperhidrosis OMIM:268800
Naegeli-Franceschetti-Jadassohn Syndrome
Anhidrosis, Hypohidrosis ORPHA:69087
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Hypohidrosis OMIM:616866
Ectodermal Dysplasia-Blindness Syndrome
Hypohidrosis ORPHA:1806
Localized Epidermolysis Bullosa Simplex
Hyperhidrosis ORPHA:79400
Lambert-Eaton Myasthenic Syndrome
Xerostomia, Hypohidrosis ORPHA:43393
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Hyperhidrosis ORPHA:276608
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hypohidrosis OMIM:301220
Multiple System Atrophy 1, Susceptibility To
Anhidrosis, Hypohidrosis OMIM:146500
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperhidrosis ORPHA:970
Silver-Russell Syndrome 2
Hyperhidrosis OMIM:618905
Parkinsonism-Dystonia 2, Infantile-Onset
Hyperhidrosis OMIM:618049
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Hyperhidrosis ORPHA:2151
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hypohidrosis ORPHA:1005
Stiff Person Spectrum Disorder
Hypothyroidism, Hyperhidrosis ORPHA:3198
Neurodevelopmental Disorder With Dystonia And Seizures
Hyperhidrosis OMIM:619922
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis ORPHA:279947
Spontaneous Periodic Hypothermia
Hyperhidrosis ORPHA:29822
Septo-Optic Dysplasia Spectrum
Hypohidrosis ORPHA:3157
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1812
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hyperhidrosis OMIM:148700
Odontoonychodermal Dysplasia
Hypohidrosis, Palmoplantar hyperhidrosis, Hyperhidrosis OMIM:257980
Erythermalgia, Primary
Xerostomia, Hyperhidrosis OMIM:133020
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hyperhidrosis ORPHA:231140
Tooth Agenesis, Selective, 4
Palmoplantar hyperhidrosis, Hypohidrosis OMIM:150400
Naxos Disease
Hyperhidrosis ORPHA:34217
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypohidrosis ORPHA:3253
Fabry Disease
Hypohidrosis OMIM:301500
Familial Dysautonomia
Hypohidrosis, Hyperhidrosis ORPHA:1764
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
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis OMIM:615510
Phelan-Mcdermid Syndrome
Hypohidrosis OMIM:606232
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Hypohidrosis ORPHA:238468
Thymic Carcinoma
Hyperhidrosis ORPHA:99868
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypohidrosis OMIM:300749
Frontonasal Dysplasia 2
Hypohidrosis OMIM:613451
Tooth Agenesis, Selective, 3
Anhidrosis OMIM:604625
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Hypohidrosis OMIM:612132
Chondroectodermal Dysplasia With Night Blindness
Hyperhidrosis ORPHA:319195
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Hyperhidrosis ORPHA:70594
Microcephalic Primordial Dwarfism, Montreal Type
Hyperhidrosis ORPHA:2617
Tufted Angioma
Hyperhidrosis ORPHA:1063
Cockayne Syndrome Type 1
Hypohidrosis ORPHA:90321
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
Arthrogryposis And Ectodermal Dysplasia
Hypohidrosis OMIM:601701
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperhidrosis OMIM:614441
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Episodic hyperhidrosis, Anhidrosis OMIM:201300
Sunct Syndrome
Episodic hyperhidrosis, Hyperhidrosis ORPHA:57145
Babesiosis
Hyperhidrosis ORPHA:108
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis ORPHA:1332
Cardiofaciocutaneous Syndrome 3
Hyperhidrosis OMIM:615279
Deeah Syndrome
Decreased response to growth hormone stimulation test, Hypohidrosis, Decreased circulating free T... OMIM:619004
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Episodic hyperhidrosis, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia ORPHA:276575
Episodic Ataxia Type 1
Hyperhidrosis ORPHA:37612
Arachnoiditis
Anhidrosis ORPHA:137817
Pheochromocytoma/Paraganglioma Syndrome 3
Hyperhidrosis OMIM:605373
Hyperinsulinism Due To Ucp2 Deficiency
Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia ORPHA:276556
Anhidrosis, Isolated, With Normal Sweat Glands
Generalized anhidrosis OMIM:106190
Classic Hodgkin Lymphoma
Hyperhidrosis ORPHA:391
Systemic Sclerosis
Hypohidrosis ORPHA:90291
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Hypohidrosis OMIM:305100
Ectodermal Dysplasia/Skin Fragility Syndrome
Anhidrosis OMIM:604536
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Hyperhidrosis OMIM:609541
Chromosome Xq26.3 Duplication Syndrome
Increased circulating prolactin concentration, Hypopituitarism, Elevated circulating growth hormo... OMIM:300942
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia ORPHA:276580
Eec Syndrome
Anterior hypopituitarism, Xerostomia, Decreased response to growth hormone stimulation test, Hypo... ORPHA:1896
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Hyperhidrosis ORPHA:320406
Chand Syndrome
Hypohidrosis ORPHA:1401
Juvenile Neuronal Ceroid Lipofuscinosis
Hyperhidrosis ORPHA:79264
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypohidrosis OMIM:609136
Kid Syndrome
Hypohidrosis ORPHA:477
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
Congenital Heart Block
Hyperhidrosis ORPHA:60041
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Decreased sweating due to autonomic dysfunction ORPHA:99027
Kleine-Levin Syndrome
Hyperhidrosis ORPHA:33543
Pure Autonomic Failure
Anhidrosis ORPHA:441
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Hyperhidrosis OMIM:619173
Insulinoma
Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Hyperhidrosis ORPHA:97279
Scalp-Ear-Nipple Syndrome
Hypohidrosis ORPHA:2036
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypohidrosis ORPHA:163746
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hyperhidrosis OMIM:167100
Fatal Familial Insomnia
Hyperhidrosis OMIM:600072
Takayasu Arteritis
Hyperhidrosis ORPHA:3287
Pituitary Gigantism
Increased circulating prolactin concentration, Elevated circulating growth hormone concentration,... ORPHA:99725
Hyperinsulinism Due To Hnf1A Deficiency
Episodic hyperhidrosis ORPHA:324575
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypohidrosis ORPHA:1071
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Hyperhidrosis OMIM:604320
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hyperhidrosis OMIM:614299
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Hyperhidrosis OMIM:615280
Pheochromocytoma/Paraganglioma Syndrome 1
Hyperhidrosis OMIM:168000
Stüve-Wiedemann Syndrome
Hypohidrosis, Hypothyroidism, Hyperhidrosis ORPHA:3206
Tyrosinemia Type 2
Hyperhidrosis ORPHA:28378
Brain Dopamine-Serotonin Vesicular Transport Disease
Hyperhidrosis ORPHA:352649
Limb-Mammary Syndrome
Hypohidrosis ORPHA:69085
Stiff-Person Syndrome
Hyperhidrosis OMIM:184850
Fabry Disease
Hypohidrosis ORPHA:324
Scalp-Ear-Nipple Syndrome
Hypohidrosis OMIM:181270
Olmsted Syndrome 1
Hyperhidrosis OMIM:614594
Anterior Cutaneous Nerve Entrapment Syndrome
Hyperhidrosis ORPHA:51890
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... ORPHA:293987
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Increased circulating free T3, Graves disease, Hyperhidrosis,... ORPHA:525731
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Hyperhidrosis OMIM:612073
Cystinosis, Nephropathic
Hypohidrosis, Primary hypothyroidism, Exocrine pancreatic insufficiency OMIM:219800
Gangliocytoma
Abnormal prolactin level, Adrenocorticotropic hormone excess, Elevated circulating growth hormone... ORPHA:251937
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hyperhidrosis ORPHA:324442
Non-Functioning Paraganglioma
Episodic hyperhidrosis ORPHA:94080
Scrub Typhus
Hyperhidrosis ORPHA:83317
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pancreatic islet-cell hyperplasia, Hyperhidrosis ORPHA:263455
Ectodermal Dysplasia-Skin Fragility Syndrome
Hypohidrosis ORPHA:158668
Noonan Syndrome 7
Hyperhidrosis OMIM:613706
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Hyperhidrosis, Increased circulating cortisol level, Hype... ORPHA:1501
Ullrich Congenital Muscular Dystrophy 1
Hyperhidrosis OMIM:254090
Fucosidosis
Hypothyroidism, Hyperhidrosis ORPHA:349
Crisponi/Cold-Induced Sweating Syndrome 1
Hyperhidrosis OMIM:272430
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Palmoplantar hyperhidrosis ORPHA:659
Monosomy 22Q13.3
Hypohidrosis ORPHA:48652
Hypermanganesemia With Dystonia 2
Hyperhidrosis OMIM:617013
Leprosy
Hypohidrosis ORPHA:548
Neuropathy, Hereditary Sensory And Autonomic, Type V
Anhidrosis OMIM:608654
Congenitally Uncorrected Transposition Of The Great Arteries
Hyperhidrosis ORPHA:860
Pachyonychia Congenita 3
Hyperhidrosis OMIM:615726
Trichorhinophalangeal Syndrome, Type Ii
Hypohidrosis, Hyperhidrosis OMIM:150230
X-Linked Acrogigantism
Elevated circulating growth hormone concentration, Adrenocorticotropic hormone deficiency, Hyperh... ORPHA:300373
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hypohidrosis ORPHA:2273
Pheochromocytoma
Hyperhidrosis OMIM:171300
Familial Tumoral Calcinosis
Hyperhidrosis ORPHA:53715
Serotonin Syndrome
Hyperhidrosis ORPHA:43116
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Hyperhidrosis OMIM:259100
Noonan Syndrome 14
Hyperhidrosis OMIM:619745
Silver-Russell Syndrome
Hyperhidrosis ORPHA:813
Aromatic L-Amino Acid Decarboxylase Deficiency
Hyperhidrosis OMIM:608643
X-Linked Intellectual Disability, Cabezas Type
Hyperhidrosis ORPHA:85293
Pheochromocytoma/Paraganglioma Syndrome 4
Hyperhidrosis OMIM:115310
Combined Immunodeficiency Due To Crac Channel Dysfunction
Anhidrosis ORPHA:169090
Familial Thrombocytosis
Hyperhidrosis ORPHA:71493
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Giant Cell Arteritis
Hyperhidrosis ORPHA:397
Phakomatosis Pigmentokeratotica
Hyperhidrosis ORPHA:2874
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Xerostomia OMIM:614941
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypohidrosis OMIM:308205
Malt Lymphoma
Hyperhidrosis ORPHA:52417
Plaa-Associated Neurodevelopmental Disorder
Hyperhidrosis ORPHA:521426
Insensitivity To Pain, Congenital, With Anhidrosis
Anhidrosis OMIM:256800
Cardiofaciocutaneous Syndrome 1
Hyperhidrosis OMIM:115150
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic hyperhidrosis ORPHA:276621
Hatipoglu Immunodeficiency Syndrome
Anhidrosis OMIM:620331
Tsh-Secreting Pituitary Adenoma
Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circulating gonadot... ORPHA:91347
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis ORPHA:251004
Central Hypoventilation Syndrome, Congenital, 1
Hyperhidrosis OMIM:209880
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:2796
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hyperhidrosis OMIM:614653
Alexander Disease
Hypothyroidism, Hyperhidrosis ORPHA:58
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
Stuve-Wiedemann Syndrome 1
Hyperhidrosis OMIM:601559
Acute Intermittent Porphyria
Hyperhidrosis ORPHA:79276
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis OMIM:223900
Complete Atrioventricular Septal Defect
Hyperhidrosis ORPHA:1329
Monosomy 22
Hyperhidrosis ORPHA:96123
Apert Syndrome
Hyperhidrosis OMIM:101200
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Hyperhidrosis OMIM:161700
Incontinentia Pigmenti
Hyperhidrosis ORPHA:464
Alternating Hemiplegia Of Childhood
Hyperhidrosis ORPHA:2131
Congenital Disorder Of Deglycosylation 1
Anhidrosis, Hyperhidrosis OMIM:615273
Hereditary Fructose Intolerance
Episodic hyperhidrosis ORPHA:469
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis ORPHA:29072
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hyperhidrosis ORPHA:17
Erdheim-Chester Disease
Hyperhidrosis ORPHA:35687
Kasabach-Merritt Syndrome
Hyperhidrosis ORPHA:2330
Pallister-Killian Syndrome
Anhidrosis, Hypohidrosis OMIM:601803
Neuroleptic Malignant Syndrome
Hyperhidrosis ORPHA:94093
Congenital Ptosis
Anhidrosis ORPHA:91411
Dyskeratosis Congenita
Hyperhidrosis ORPHA:1775
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
Fucosidosis
Anhidrosis OMIM:230000
Cocaine Intoxication
Hyperhidrosis ORPHA:90068
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis OMIM:617799
Gitelman Syndrome
Primary hyperaldosteronism, Graves disease, Hashimoto thyroiditis, Hyperhidrosis ORPHA:358
Multiple Endocrine Neoplasia Type 2
Primary hyperparathyroidism, Hyperhidrosis ORPHA:653
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Hyperhidrosis ORPHA:892
Hemorrhagic Fever-Renal Syndrome
Hyperhidrosis ORPHA:340
Scorpion Envenomation
Acute pancreatitis, Hyperhidrosis ORPHA:466677
Somatomammotropinoma
Increased circulating prolactin concentration, Anterior hypopituitarism, Elevated circulating gro... ORPHA:314769
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Orchitis, Hyperhidrosis, Adrenal insufficiency, Parotitis ORPHA:99827
Acromegaly
Anterior hypopituitarism, Elevated circulating growth hormone concentration, Hyperhidrosis ORPHA:963
Brucellosis
Orchitis, Hyperhidrosis 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
Anhidrosis, Hyperhidrosis ORPHA:642
Cockayne Syndrome
Anhidrosis ORPHA:191
Exercise-Induced Malignant Hyperthermia
Anhidrosis ORPHA:466650

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 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.

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
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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