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:
T-type Cav3.2,  Cav3.2,  alpha13.2

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
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Mounier-Kühn Syndrome
Tracheobronchmegaly, Tracheal stenosis ORPHA:3347
Tracheobronchopathia Osteochondroplastica
Abnormal tracheobronchial morphology, Abnormal bronchus morphology, Calcification of cartilage, T... ORPHA:3348
Tracheal Agenesis
Tracheal atresia ORPHA:3346
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia OMIM:601612
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Tracheal stenosis ORPHA:93941
Tracheobronchomegaly
Bronchiectasis, Diverticulosis of trachea OMIM:275300
Keutel Syndrome
Calcification of cartilage, Tracheal atresia ORPHA:85202
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Jung Syndrome
Tracheal stenosis ORPHA:2321
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Pendred Syndrome
Tracheal stenosis ORPHA:705
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis OMIM:620183
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Laryngomalacia
Abnormal tracheal morphology OMIM:150280
Hypomandibular Faciocranial Dysostosis
Abnormal tracheobronchial morphology, Tracheal stenosis ORPHA:1790
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheomalacia, Wide anterior fontanel, Tracheal stenosis OMIM:217980
Hurler-Scheie Syndrome
Tracheal stenosis OMIM:607015
Diastrophic Dysplasia
Costal cartilage calcification, Laryngotracheal stenosis OMIM:222600
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal bronchus morphology, Tracheal stenosis ORPHA:93352
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Abnormal bronchus morphology, Tracheal stenosis ORPHA:79345
Hydrolethalus
Tracheal atresia ORPHA:2189
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Vacterl/Vater Association
Tracheoesophageal fistula, Tracheal stenosis ORPHA:887
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal calcification, Tracheal stenosis OMIM:302960
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis ORPHA:3301
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Tracheal stenosis ORPHA:2637
Larsen Syndrome
Tracheomalacia, Bronchomalacia, Spina bifida occulta, Tracheal stenosis OMIM:150250
Geleophysic Dysplasia 3
Tracheal stenosis OMIM:617809
Igg4-Related Thyroid Disease
Tracheal stenosis ORPHA:64744
Granulomatosis With Polyangiitis
Tracheal stenosis OMIM:608710
Cartilage-Hair Hypoplasia
Tracheal stenosis ORPHA:175
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula ORPHA:142
Craniofacioskeletal Syndrome
Tracheal stenosis OMIM:300712
Geleophysic Dysplasia 1
Laryngotracheal stenosis, Tracheal stenosis OMIM:231050
Fraser Syndrome 3
Tracheal atresia OMIM:617667
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula OMIM:189960
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis ORPHA:163979
Frontometaphyseal Dysplasia 2
Tracheal stenosis OMIM:617137
Smith-Lemli-Opitz Syndrome
Tracheal stenosis ORPHA:818
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Abnormal tracheal morphology OMIM:616006
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Cardiocranial Syndrome, Pfeiffer Type
Abnormal tracheal morphology ORPHA:2872
Recurrent Respiratory Papillomatosis
Abnormal tracheal morphology, Tracheomalacia ORPHA:60032
Fraser Syndrome
Tracheal stenosis ORPHA:2052
Hydrolethalus Syndrome 1
Tracheal stenosis OMIM:236680
Atelosteogenesis Type I
Laryngotracheal stenosis ORPHA:1190
Primary Pulmonary Hypoplasia
Abnormal tracheal morphology ORPHA:2257
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tracheal stenosis ORPHA:261537
Mowat-Wilson Syndrome
Tracheal stenosis ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tracheal stenosis ORPHA:261552
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Laryngotracheal stenosis ORPHA:508533
Pfeiffer Syndrome
Tracheal cartilaginous sleeve, Bronchomalacia OMIM:101600
Congenital Tracheomalacia
Tracheomalacia, Anomalous tracheal cartilage, Tracheobronchomalacia, Bronchomalacia, Tracheoesoph... ORPHA:95430
Cerebrofacioarticular Syndrome
Abnormal tracheal morphology, Tracheomalacia ORPHA:314679
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Congenital Tracheal Stenosis
Abnormal tracheal morphology, Tracheoesophageal fistula, Abnormal tracheobronchial morphology, Ab... ORPHA:141127
X-Linked Dominant Chondrodysplasia Punctata
Anomalous tracheal cartilage ORPHA:35173
Myhre Syndrome
Laryngotracheal stenosis OMIM:139210
Glomuvenous Malformation
Abnormal tracheal morphology ORPHA:83454
Apert Syndrome
Anomalous tracheal cartilage OMIM:101200
Microsporidiosis
Abnormal tracheal morphology ORPHA:2552
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology ORPHA:93284
Cerebrocostomandibular Syndrome
Anomalous tracheal cartilage OMIM:117650
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology ORPHA:2396
Multiple Osteochondromas
Abnormal cartilage morphology ORPHA:321
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.

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
Cacna1htm237007(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cacna1htm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cacna1htm220795(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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