Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
calcium channel, voltage-dependent, T type, alpha 1H subunit
Synonyms:
Cav3.2,  alpha13.2,  T-type Cav3.2

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 Cacna1h 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 Cacna1h by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Childhood Absence Epilepsy
ORPHA:64280

The table below shows human diseases predicted to be associated to Cacna1h by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Bronchitis, Pneumonia, Atelectasis, Abnormal tracheobron... ORPHA:3348
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia ORPHA:3346
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Tracheal atresia OMIM:601612
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Laryngomalacia ORPHA:93941
Keutel Syndrome
Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Calc... ORPHA:85202
Jung Syndrome
Tracheal stenosis, Depressed nasal bridge, Recurrent respiratory infections, Wide nasal bridge ORPHA:2321
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Laryngomalacia
Abnormal trachea morphology, Laryngomalacia OMIM:150280
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Pulmonary hypoplasia, Tracheomalacia, Laryngomalacia OMIM:245650
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Pendred Syndrome
Tracheal stenosis ORPHA:705
Hurler-Scheie Syndrome
Tracheal stenosis, Recurrent respiratory infections, Depressed nasal bridge OMIM:607015
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Short nose, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalac... OMIM:217980
Chops Syndrome
Tracheal stenosis, Aspiration pneumonia, Short nose, Laryngomalacia OMIM:616368
Geleophysic Dysplasia 3
Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Tracheal stenosis, Anteverted na... OMIM:617809
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the larynx, Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Aplasia/Hypoplasia... ORPHA:3301
Granulomatosis With Polyangiitis
Pleuritis, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportion, Diff... OMIM:608710
Fraser Syndrome 3
Tracheal atresia, Wide nose, Abnormal lung lobation OMIM:617667
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Hypomandibular Faciocranial Dysostosis
Short nose, Laryngeal hypoplasia, Abnormal tracheobronchial morphology, Tracheal stenosis, Anteve... ORPHA:1790
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Short nose, Laryngeal calcification, Tracheal stenosis, Pulmonary artery ... ORPHA:79345
Diastrophic Dysplasia
Costal cartilage calcification, Laryngotracheal stenosis OMIM:222600
Vacterl/Vater Association
Tracheal stenosis, Aplasia/Hypoplasia of the lungs, Tracheoesophageal fistula, Laryngomalacia ORPHA:887
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Wide nasal bridge, Laryngomalacia, Tracheal stenosis, Recurrent respir... ORPHA:2637
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Laryngeal stenosis, Abnormal bronchus morphology ORPHA:93352
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal calcification, Tracheal stenosis OMIM:302960
Hydrolethalus
Tracheal atresia, Laryngomalacia ORPHA:2189
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Larsen Syndrome
Tracheomalacia, Spina bifida occulta, Tracheal stenosis, Bronchomalacia, Depressed nasal bridge OMIM:150250
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Tracheomalacia, Atelectas... ORPHA:60032
Craniofacioskeletal Syndrome
Hypoplastic frontal sinuses, Choanal atresia, Tracheal stenosis OMIM:300712
Cartilage-Hair Hypoplasia
Tracheal stenosis, Anteverted nares, Wide nasal bridge, Depressed nasal bridge ORPHA:175
Geleophysic Dysplasia 1
Anteverted nares, Short nose, Tracheal stenosis OMIM:231050
Frontometaphyseal Dysplasia 2
Broad nasal tip, Wide nasal bridge, Depressed nasal bridge, Tracheal stenosis, Subglottic stenosis OMIM:617137
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Choanal atresia, Underdeveloped nasal alae, Tracheal stenosis ORPHA:163979
Smith-Lemli-Opitz Syndrome
Abnormality of the larynx, Choanal atresia, Wide nasal bridge, Pulmonary hypoplasia, Tracheal ste... ORPHA:818
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Neoplasm of the lung, Hemoptysis ORPHA:142
Chitayat Syndrome
Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia, Anteverted nares, Rec... OMIM:617180
Fraser Syndrome
Midline nasal groove, Underdeveloped nasal alae, Subglottic stenosis, Laryngeal stenosis, Wide na... ORPHA:2052
Hydrolethalus Syndrome 1
Laryngeal hypoplasia, Midline defect of the nose, Tracheal stenosis, Bifid nose, Abnormal lung lo... OMIM:236680
Cardiocranial Syndrome, Pfeiffer Type
Abnormal trachea morphology, Wide nasal bridge ORPHA:2872
Ollier Disease
Abnormal cartilage morphology, Multiple enchondromatosis ORPHA:296
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Pulmonary hypoplasia, Abnormal trachea morphology, Recurren... ORPHA:2257
Agnathia-Otocephaly Complex
Hypoplasia of the epiglottis, Tracheomalacia, Laryngeal hypoplasia OMIM:202650
Choanal Atresia
Tracheomalacia, Laryngomalacia, Chronic sinusitis, Recurrent respiratory infections, Subglottic s... ORPHA:137914
Pfeiffer Syndrome
Short nose, Choanal atresia, Cartilaginous trachea, Bronchomalacia, Depressed nasal bridge OMIM:101600
Kniest Dysplasia
Abnormal cartilage collagen, Tracheomalacia, Depressed nasal bridge OMIM:156550
Waardenburg Syndrome Type 3
Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Atelosteogenesis Type I
Laryngotracheal stenosis, Pulmonary hypoplasia, Laryngeal stenosis ORPHA:1190
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Tracheomalacia OMIM:615490
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormality of the pulmonary artery, Pulmonary artery sling, Tracheal stenosis, Wide nasal bridge ORPHA:261537
Congenital Tracheal Stenosis
Abnormal lung lobation, Abnormal lung morphology, Anomalous origin of left pulmonary artery from ... ORPHA:141127
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormality of the pulmonary artery, Pulmonary artery sling, Tracheal stenosis, Wide nasal bridge ORPHA:261552
Mowat-Wilson Syndrome
Pulmonary artery sling, Tracheal stenosis, Wide nasal bridge ORPHA:2152
Cerebrofacioarticular Syndrome
Abnormal trachea morphology, Bilateral choanal atresia/stenosis, Tracheomalacia, Wide nasal bridge ORPHA:314679
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Abnormal cartilage morphology, Wide anterior fontanel ORPHA:2347
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Bulbous nose, Short nose, Laryngotracheal stenosis, Recurrent pneumonia, Long nose, Anteverted na... ORPHA:508533
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Anteverted nares, Laryngomalacia, Tracheomalacia, Depressed nasal bridge OMIM:618797
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Pulmonary hypoplasia, Pulmonary art... OMIM:613177
Diamond-Blackfan Anemia 6
Tracheomalacia OMIM:612561
Meier-Gorlin Syndrome 2
Bronchomalacia, Tracheomalacia, Underdeveloped nasal alae OMIM:613800
Diaphanospondylodysostosis
Pulmonary hypoplasia, Short nose, Tracheomalacia, Depressed nasal bridge OMIM:608022
2Q37 Microdeletion Syndrome
Underdeveloped nasal alae, Tracheomalacia, Laryngomalacia, Anteverted nares, Depressed nasal bridge ORPHA:1001
Martsolf Syndrome 1
Recurrent respiratory infections, Broad nasal tip, Tracheomalacia, Depressed nasal bridge OMIM:212720
Microsporidiosis
Abnormal vocal cord morphology, Bronchiolitis, Pneumonia, Abnormal trachea morphology, Sinusitis,... ORPHA:2552
Pfeiffer Syndrome Type 2
Short nose, Choanal atresia, Tracheomalacia, Laryngomalacia, Depressed nasal bridge ORPHA:93259
Campomelic Dysplasia
Tracheobronchomalacia, Laryngomalacia, Tracheomalacia, Depressed nasal bridge ORPHA:140
Glomuvenous Malformation
Abnormal trachea morphology ORPHA:83454
Pfeiffer Syndrome Type 3
Short nose, Choanal atresia, Tracheomalacia, Laryngomalacia, Depressed nasal bridge ORPHA:93260
Van Maldergem Syndrome 2
Wide anterior fontanel, Tracheomalacia, Wide nasal bridge OMIM:615546
Van Maldergem Syndrome 1
Wide anterior fontanel, Tracheomalacia, Wide nasal bridge OMIM:601390
Hallermann-Streiff Syndrome
Underdeveloped nasal alae, Tracheomalacia, Recurrent pneumonia, Prominent nasal bridge, Recurrent... OMIM:234100
Kleefstra Syndrome Due To A Point Mutation
Tracheomalacia ORPHA:261652
Meier-Gorlin Syndrome 3
Tracheomalacia, Laryngomalacia, Recurrent pneumonia, Bronchomalacia, Prominent nasal bridge OMIM:613803
Apert Syndrome
Anomalous tracheal cartilage, Choanal atresia, Depressed nasal bridge OMIM:101200
Kleefstra Syndrome
Short nose, Tracheomalacia, Pulmonary artery stenosis, Anteverted nares, Recurrent respiratory in... ORPHA:261494
Mycophenolate Mofetil Embryopathy
Bifid nose, Tracheoesophageal fistula, Tracheomalacia ORPHA:268249
Myhre Syndrome
Laryngotracheal stenosis, Prominent nasal bridge OMIM:139210
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology ORPHA:93284
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Laryngomalacia, Tracheomalacia, Depressed nasal bridge ORPHA:412069
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Wide nasal bridge, Laryngeal web, Spina bifida occulta, Paranasal sinus hypoplasia OMIM:300373
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Short nose, Tracheomalacia, Atelectasis, Repeated pneumothoraces, Pulmonary hypoplasia, Anteverte... ORPHA:536467
7Q11.23 Microduplication Syndrome
Tracheomalacia, Broad nasal tip ORPHA:96121
Opitz Gbbb Syndrome
Laryngeal cleft, Tracheomalacia, Wide nasal bridge, Recurrent aspiration pneumonia, Anteverted na... ORPHA:2745
Hallermann-Streiff Syndrome
Tracheomalacia, Choanal atresia, Underdeveloped nasal alae ORPHA:2108
Koolen-De Vries Syndrome Due To A Point Mutation
Pear-shaped nose, Bulbous nose, Underdeveloped nasal alae, Tracheomalacia, Wide nasal bridge, Lar... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pear-shaped nose, Bulbous nose, Underdeveloped nasal alae, Tracheomalacia, Wide nasal bridge, Lar... ORPHA:363958
Cerebrocostomandibular Syndrome
Anomalous tracheal cartilage OMIM:117650
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology ORPHA:2396
Costello Syndrome
Wide anterior fontanel, Tracheomalacia, Bronchomalacia, Anteverted nares, Pneumothorax, Depressed... OMIM:218040
Cerebrocostomandibular Syndrome
Tracheomalacia ORPHA:1393
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short nose, Tracheomalacia, Laryngomalacia, Aspiration pneumonia, Anteverted nares, Subglottic st... ORPHA:444077
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Anteverted nares, Tracheomalacia, Depressed nasal bridge ORPHA:513456
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Childhood Absence Epilepsy
ORPHA:64280

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 Cacna1h

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 Cacna1h.

No publications found that use IMPC mice or data for Cacna1h.

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MGI Allele Allele Type Produced
Cacna1htm220795(L1L2_Bact_P) Targeting vectors
Cacna1htm237007(L1L2_Bact_P) Targeting vectors

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