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

IMPC Data Collections

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

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.

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
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
Hypotrichosis 9
Hypohidrosis OMIM:614237
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
Ichthyosis, X-Linked
Hypohidrosis OMIM:308100
Van Den Bosch Syndrome
Anhidrosis OMIM:314500
Dermatopathia Pigmentosa Reticularis
Hypohidrosis OMIM:125595
Recessive X-Linked Ichthyosis
Hypohidrosis ORPHA:461
Cluster Headache, Familial
Hyperhidrosis OMIM:119915
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Hypohidrosis OMIM:602401
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis ORPHA:248
Digital Extensor Muscle Aplasia-Polyneuropathy
Hypohidrosis ORPHA:2926
Spinocerebellar Ataxia Type 34
Hypohidrosis ORPHA:1955
Marsili Syndrome
Hypohidrosis OMIM:147430
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
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis ORPHA:1882
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Hypohidrosis OMIM:129490
Ichthyosis, Congenital, Autosomal Recessive 3
Hypohidrosis, Anhidrosis OMIM:606545
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis ORPHA:363523
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Anterior hypopituitarism ORPHA:181
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Hypohidrosis ORPHA:1810
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Hyperhidrosis OMIM:137200
Dermoodontodysplasia
Hypohidrosis ORPHA:1660
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hypohidrosis OMIM:615704
Crisponi Syndrome
Hypohidrosis, Hyperhidrosis ORPHA:1545
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Hyperhidrosis OMIM:615548
Focal Palmoplantar And Gingival Keratoderma
Hyperhidrosis ORPHA:2200
Indifference To Pain, Congenital, Autosomal Recessive
Hypohidrosis, Anhidrosis OMIM:243000
Erythrokeratodermia Variabilis Et Progressiva 7
Anhidrosis OMIM:619209
Böök Syndrome
Hyperhidrosis ORPHA:1262
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 Ichthyosiform Erythroderma
Hypohidrosis ORPHA:79394
Late-Onset Junctional Epidermolysis Bullosa
Hyperhidrosis ORPHA:79406
Ichthyosis, Congenital, Autosomal Recessive 9
Hypohidrosis OMIM:615023
Syndromic Recessive X-Linked Ichthyosis
Hypohidrosis ORPHA:281090
Limb-Mammary Syndrome
Hypohidrosis OMIM:603543
Laron Syndrome
Hypohidrosis ORPHA:633
Dahlberg-Borer-Newcomer Syndrome
Hypothyroidism, Hypoparathyroidism, Hypohidrosis ORPHA:1563
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Hypohidrosis, Anhidrosis 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
Hypohidrosis, Xerostomia, Hyperparathyroidism, Anhidrosis OMIM:617671
Bathing Suit Ichthyosis
Hypohidrosis ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 2
Hypohidrosis, Anhidrosis OMIM:242100
Ichthyosis, Congenital, Autosomal Recessive 6
Hypohidrosis OMIM:612281
Diencephalic Syndrome
Hyperhidrosis ORPHA:1672
Ichthyosis, Congenital, Autosomal Recessive 11
Hypohidrosis OMIM:602400
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hypohidrosis OMIM:616488
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hyperhidrosis ORPHA:86893
Epidermolytic Palmoplantar Keratoderma
Hyperhidrosis ORPHA:2199
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Hypohidrosis ORPHA:98813
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis OMIM:613576
Lelis Syndrome
Hypohidrosis ORPHA:140936
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Episodic hyperhidrosis OMIM:613115
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
Buerger Disease
Hyperhidrosis ORPHA:36258
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Decreased sweating due to autonomic dysfunction OMIM:169500
Johnson Neuroectodermal Syndrome
Hypohidrosis ORPHA:2316
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
Hypohidrosis, Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:363528
Graves Disease
Graves disease, Increased circulating free T3, Hyperhidrosis, Increased circulating free T4 conce... OMIM:275000
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Hypohidrosis OMIM:616866
Localized Epidermolysis Bullosa Simplex
Hyperhidrosis ORPHA:79400
Naegeli-Franceschetti-Jadassohn Syndrome
Hypohidrosis, Anhidrosis ORPHA:69087
Sandhoff Disease
Hypohidrosis, Hyperhidrosis OMIM:268800
Immunodeficiency 10
Hypohidrosis OMIM:612783
Ectodermal Dysplasia-Blindness Syndrome
Hypohidrosis ORPHA:1806
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Hyperhidrosis OMIM:225280
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperhidrosis, Pancreatic islet-cell hyperplasia ORPHA:276608
Multiple System Atrophy 1, Susceptibility To
Hypohidrosis, Anhidrosis OMIM:146500
Lambert-Eaton Myasthenic Syndrome
Hypohidrosis, Xerostomia ORPHA:43393
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hypohidrosis OMIM:301220
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperhidrosis ORPHA:970
Silver-Russell Syndrome 2
Hyperhidrosis OMIM:618905
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Hyperhidrosis ORPHA:2151
Stiff Person Spectrum Disorder
Hypothyroidism, Hyperhidrosis ORPHA:3198
Neurodevelopmental Disorder With Dystonia And Seizures
Hyperhidrosis OMIM:619922
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hypohidrosis ORPHA:1005
Postorgasmic Illness Syndrome
Hyperhidrosis, Xerostomia ORPHA:279947
Parkinsonism-Dystonia 2, Infantile-Onset
Hyperhidrosis OMIM:618049
Spontaneous Periodic Hypothermia
Hyperhidrosis ORPHA:29822
Septo-Optic Dysplasia Spectrum
Hypohidrosis ORPHA:3157
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypohidrosis, Hypothyroidism ORPHA:1812
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hyperhidrosis OMIM:148700
Odontoonychodermal Dysplasia
Hypohidrosis, Palmoplantar hyperhidrosis, Hyperhidrosis OMIM:257980
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hyperhidrosis ORPHA:231140
Erythermalgia, Primary
Hyperhidrosis, Xerostomia OMIM:133020
Tooth Agenesis, Selective, 4
Hypohidrosis, Palmoplantar hyperhidrosis OMIM:150400
Familial Dysautonomia
Hypohidrosis, Hyperhidrosis ORPHA:1764
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypohidrosis ORPHA:3253
Naxos Disease
Hyperhidrosis ORPHA:34217
Fabry Disease
Hypohidrosis OMIM:301500
Thymic Carcinoma
Hyperhidrosis ORPHA:99868
Hereditary Sensory And Autonomic Neuropathy Type 5
Anhidrosis ORPHA:64752
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Hypohidrosis OMIM:148210
Marshall Syndrome
Hypohidrosis ORPHA:560
Familial Cold Urticaria
Hyperhidrosis ORPHA:47045
Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Xerostomia ORPHA:238468
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hypohidrosis, Adrenal insufficiency OMIM:615510
Frontonasal Dysplasia 2
Hypohidrosis OMIM:613451
Phelan-Mcdermid Syndrome
Hypohidrosis OMIM:606232
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Hypohidrosis OMIM:300749
Tufted Angioma
Hyperhidrosis ORPHA:1063
Tooth Agenesis, Selective, 3
Anhidrosis OMIM:604625
Ectodermal Dysplasia And Immunodeficiency 2
Hypohidrosis, Anhidrosis OMIM:612132
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Hyperhidrosis ORPHA:70594
Chondroectodermal Dysplasia With Night Blindness
Hyperhidrosis ORPHA:319195
Microcephalic Primordial Dwarfism, Montreal Type
Hyperhidrosis ORPHA:2617
Cockayne Syndrome Type 1
Hypohidrosis ORPHA:90321
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hyperhidrosis ORPHA:231137
Rapp-Hodgkin Syndrome
Hypohidrosis OMIM:129400
Sunct Syndrome
Hyperhidrosis, Episodic hyperhidrosis ORPHA:57145
Babesiosis
Hyperhidrosis ORPHA:108
Arthrogryposis And Ectodermal Dysplasia
Hypohidrosis OMIM:601701
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Anhidrosis, Episodic hyperhidrosis OMIM:201300
Phoar2-Enteropathy Syndrome
Hyperhidrosis OMIM:614441
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypohidrosis, Decrease... OMIM:619004
Narcolepsy Type 1
Hyperhidrosis ORPHA:2073
Cardiofaciocutaneous Syndrome 3
Hyperhidrosis OMIM:615279
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
Classic Hodgkin Lymphoma
Hyperhidrosis ORPHA:391
Arachnoiditis
Anhidrosis ORPHA:137817
Episodic Ataxia Type 1
Hyperhidrosis ORPHA:37612
Hyperinsulinism Due To Ucp2 Deficiency
Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia ORPHA:276556
Anhidrosis, Isolated, With Normal Sweat Glands
Generalized anhidrosis OMIM:106190
Aromatic L-Amino Acid Decarboxylase Deficiency
Increased circulating prolactin concentration, Hyperhidrosis ORPHA:35708
Systemic Sclerosis
Hypohidrosis ORPHA:90291
Pheochromocytoma/Paraganglioma Syndrome 3
Hyperhidrosis OMIM:605373
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Hyperhidrosis OMIM:609541
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrosis, Anhidrosis OMIM:305100
Chand Syndrome
Hypohidrosis ORPHA:1401
Chromosome Xq26.3 Duplication Syndrome
Hypopituitarism, Increased circulating prolactin concentration, Hyperhidrosis, Elevated circulati... OMIM:300942
Ectodermal Dysplasia/Skin Fragility Syndrome
Anhidrosis OMIM:604536
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia ORPHA:276580
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypohidrosis OMIM:609136
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Hyperhidrosis ORPHA:320406
Eec Syndrome
Hypohidrosis, Xerostomia, Decreased response to growth hormone stimulation test, Anterior hypopit... ORPHA:1896
Hypotrichosis 8
Hyperhidrosis OMIM:278150
Juvenile Neuronal Ceroid Lipofuscinosis
Hyperhidrosis ORPHA:79264
Bjornstad Syndrome
Anhidrosis OMIM:262000
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hyperhidrosis OMIM:245400
Kid Syndrome
Hypohidrosis ORPHA:477
Congenital Heart Block
Hyperhidrosis ORPHA:60041
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Anhidrosis OMIM:613640
Pheochromocytoma--Islet Cell Tumor Syndrome
Hyperhidrosis OMIM:171420
Kleine-Levin Syndrome
Hyperhidrosis ORPHA:33543
Pure Autonomic Failure
Anhidrosis ORPHA:441
Insulinoma
Hyperhidrosis, Abnormality of the pancreatic islet cells, Primary hyperparathyroidism ORPHA:97279
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Decreased sweating due to autonomic dysfunction ORPHA:99027
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Hypohidrosis ORPHA:1071
Fatal Familial Insomnia
Hyperhidrosis OMIM:600072
Scalp-Ear-Nipple Syndrome
Hypohidrosis ORPHA:2036
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypohidrosis ORPHA:163746
Pituitary Gigantism
Increased circulating prolactin concentration, Hyperhidrosis, Elevated circulating growth hormone... ORPHA:99725
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hyperhidrosis OMIM:167100
Hyperinsulinism Due To Hnf1A Deficiency
Episodic hyperhidrosis ORPHA:324575
Takayasu Arteritis
Hyperhidrosis ORPHA:3287
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Hyperhidrosis OMIM:604320
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Hyperhidrosis OMIM:619173
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hyperhidrosis OMIM:614299
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Hyperhidrosis OMIM:615280
Stüve-Wiedemann Syndrome
Hypohidrosis, Hyperhidrosis, Hypothyroidism ORPHA:3206
Limb-Mammary Syndrome
Hypohidrosis ORPHA:69085
Tyrosinemia Type 2
Hyperhidrosis ORPHA:28378
Anterior Cutaneous Nerve Entrapment Syndrome
Hyperhidrosis ORPHA:51890
Stiff-Person Syndrome
Hyperhidrosis OMIM:184850
Pheochromocytoma/Paraganglioma Syndrome 1
Hyperhidrosis OMIM:168000
Scalp-Ear-Nipple Syndrome
Hypohidrosis OMIM:181270
Brain Dopamine-Serotonin Vesicular Transport Disease
Hyperhidrosis ORPHA:352649
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... ORPHA:293987
Fabry Disease
Hypohidrosis ORPHA:324
Olmsted Syndrome 1
Hyperhidrosis OMIM:614594
Scrub Typhus
Hyperhidrosis ORPHA:83317
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Thyrotoxicosis with diffus... ORPHA:525731
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Hyperhidrosis OMIM:612073
Cystinosis, Nephropathic
Primary hypothyroidism, Exocrine pancreatic insufficiency, Hypohidrosis OMIM:219800
Gangliocytoma
Hyperhidrosis, Adrenocorticotropic hormone excess, Abnormal prolactin level, Elevated circulating... ORPHA:251937
Non-Functioning Paraganglioma
Episodic hyperhidrosis ORPHA:94080
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hyperhidrosis ORPHA:324442
Ectodermal Dysplasia-Skin Fragility Syndrome
Hypohidrosis ORPHA:158668
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperhidrosis, Pancreatic islet-cell hyperplasia ORPHA:263455
Noonan Syndrome 7
Hyperhidrosis OMIM:613706
Fucosidosis
Hypothyroidism, Hyperhidrosis ORPHA:349
Ullrich Congenital Muscular Dystrophy 1A
Hyperhidrosis OMIM:254090
Adrenocortical Carcinoma
Elevated serum 11-deoxycortisol, Adrenocorticotropic hormone deficiency, Hyperhidrosis, Hyperaldo... ORPHA:1501
Crisponi/Cold-Induced Sweating Syndrome 1
Hyperhidrosis OMIM:272430
Monosomy 22Q13.3
Hypohidrosis ORPHA:48652
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Palmoplantar hyperhidrosis ORPHA:659
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
Adrenocorticotropic hormone deficiency, Hyperhidrosis, Elevated circulating growth hormone concen... 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
Noonan Syndrome 14
Hyperhidrosis OMIM:619745
Silver-Russell Syndrome
Hyperhidrosis ORPHA:813
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Hyperhidrosis OMIM:259100
X-Linked Intellectual Disability, Cabezas Type
Hyperhidrosis ORPHA:85293
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Aromatic L-Amino Acid Decarboxylase Deficiency
Hyperhidrosis OMIM:608643
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperhidrosis OMIM:225060
Pheochromocytoma/Paraganglioma Syndrome 4
Hyperhidrosis OMIM:115310
Familial Thrombocytosis
Hyperhidrosis ORPHA:71493
Combined Immunodeficiency Due To Crac Channel Dysfunction
Anhidrosis ORPHA:169090
Giant Cell Arteritis
Hyperhidrosis ORPHA:397
Phakomatosis Pigmentokeratotica
Hyperhidrosis ORPHA:2874
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Xerostomia OMIM:614941
Plaa-Associated Neurodevelopmental Disorder
Hyperhidrosis ORPHA:521426
Malt Lymphoma
Hyperhidrosis ORPHA:52417
Insensitivity To Pain, Congenital, With Anhidrosis
Anhidrosis OMIM:256800
Cardiofaciocutaneous Syndrome 1
Hyperhidrosis OMIM:115150
Hatipoglu Immunodeficiency Syndrome
Anhidrosis OMIM:620331
Sporadic Pheochromocytoma/Secreting Paraganglioma
Episodic hyperhidrosis ORPHA:276621
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis ORPHA:251004
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hyperhidrosis OMIM:614653
Central Hypoventilation Syndrome, Congenital, 1
Hyperhidrosis OMIM:209880
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypohidrosis OMIM:308205
Tsh-Secreting Pituitary Adenoma
Increased circulating gonadotropin level, Thyroid crisis, Adrenocorticotropic hormone deficiency,... ORPHA:91347
Pachydermoperiostosis
Hyperhidrosis, Elevated circulating growth hormone concentration ORPHA:2796
Alexander Disease
Hypothyroidism, Hyperhidrosis ORPHA:58
Lujo Hemorrhagic Fever
Hyperhidrosis ORPHA:319213
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis OMIM:223900
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
Complete Atrioventricular Septal Defect
Hyperhidrosis ORPHA:1329
Acute Intermittent Porphyria
Hyperhidrosis ORPHA:79276
Monosomy 22
Hyperhidrosis ORPHA:96123
Pallister-Killian Syndrome
Anhidrosis, Hypohidrosis OMIM:601803
Incontinentia Pigmenti
Hyperhidrosis ORPHA:464
Congenital Disorder Of Deglycosylation 1
Anhidrosis, Hyperhidrosis OMIM:615273
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Hyperhidrosis OMIM:161700
Apert Syndrome
Hyperhidrosis OMIM:101200
Alternating Hemiplegia Of Childhood
Hyperhidrosis ORPHA:2131
Erdheim-Chester Disease
Hyperhidrosis ORPHA:35687
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis ORPHA:29072
Hereditary Fructose Intolerance
Episodic hyperhidrosis ORPHA:469
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hyperhidrosis ORPHA:17
Neuroleptic Malignant Syndrome
Hyperhidrosis ORPHA:94093
Kasabach-Merritt Phenomenon
Hyperhidrosis ORPHA:2330
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
Cocaine Intoxication
Hyperhidrosis ORPHA:90068
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Anhidrosis OMIM:106260
Fucosidosis
Anhidrosis OMIM:230000
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis OMIM:617799
Gitelman Syndrome
Graves disease, Hashimoto thyroiditis, Primary hyperaldosteronism, Hyperhidrosis ORPHA:358
Multiple Endocrine Neoplasia Type 2
Hyperhidrosis, Primary hyperparathyroidism ORPHA:653
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Hyperhidrosis ORPHA:892
Hemorrhagic Fever-Renal Syndrome
Hyperhidrosis ORPHA:340
Scorpion Envenomation
Hyperhidrosis, Acute pancreatitis ORPHA:466677
Somatomammotropinoma
Increased circulating prolactin concentration, Hyperhidrosis, Elevated circulating growth hormone... ORPHA:314769
Crimean-Congo Hemorrhagic Fever
Parotitis, Acute pancreatitis, Hyperhidrosis, Orchitis, Adrenal insufficiency ORPHA:99827
Acromegaly
Hyperhidrosis, Elevated circulating growth hormone concentration, Anterior hypopituitarism ORPHA:963
Dyskeratosis Congenita, X-Linked
Hyperhidrosis OMIM:305000
Osteogenesis Imperfecta
Hyperhidrosis ORPHA:666
Brucellosis
Hyperhidrosis, Orchitis ORPHA:1304
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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