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Gene: Cacna1h MGI:1928842

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

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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 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
Tracheal stenosis, Tracheobronchmegaly ORPHA:3347
Tracheal Agenesis
Tracheal atresia ORPHA:3346
Tracheobronchopathia Osteochondroplastica
Abnormal bronchus morphology, Tracheal calcification, Abnormal tracheobronchial morphology, Calci... ORPHA:3348
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia OMIM:601612
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula ORPHA:93941
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Tracheobronchomegaly
Diverticulosis of trachea, Bronchiectasis OMIM:275300
Jung Syndrome
Tracheal stenosis ORPHA:2321
Keutel Syndrome
Tracheal atresia, Calcification of cartilage ORPHA:85202
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis OMIM:601427
Pendred Syndrome
Tracheal stenosis ORPHA:705
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis OMIM:620183
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis, Wide anterior fontanel, Tracheomalacia OMIM:217980
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Abnormal tracheobronchial morphology ORPHA:1790
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Laryngomalacia
Abnormal tracheal morphology OMIM:150280
Hurler-Scheie Syndrome
Tracheal stenosis OMIM:607015
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Abnormal bronchus morphology ORPHA:93352
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Vacterl/Vater Association
Tracheal stenosis, Tracheoesophageal fistula ORPHA:887
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Abnormal bronchus morphology, Tracheal stenosis ORPHA:79345
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal calcification, Tracheal stenosis OMIM:302960
Diastrophic Dysplasia
Costal cartilage calcification, Laryngotracheal stenosis OMIM:222600
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis ORPHA:3301
Hydrolethalus
Tracheal atresia ORPHA:2189
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Abnormal cartilage matrix OMIM:245650
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Tracheal stenosis ORPHA:2637
Larsen Syndrome
Tracheal stenosis, Spina bifida occulta, Bronchomalacia, Tracheomalacia 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
Craniofacioskeletal Syndrome
Tracheal stenosis OMIM:300712
Geleophysic Dysplasia 1
Tracheal stenosis OMIM:231050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis ORPHA:163979
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Frontometaphyseal Dysplasia 2
Tracheal stenosis OMIM:617137
Fraser Syndrome 3
Tracheal atresia OMIM:617667
Smith-Lemli-Opitz Syndrome
Tracheal stenosis ORPHA:818
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula ORPHA:142
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Cardiocranial Syndrome, Pfeiffer Type
Abnormal tracheal morphology ORPHA:2872
Recurrent Respiratory Papillomatosis
Tracheomalacia, Abnormal tracheal morphology ORPHA:60032
Fraser Syndrome
Tracheal stenosis ORPHA:2052
Hydrolethalus Syndrome 1
Tracheal stenosis OMIM:236680
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
Primary Pulmonary Hypoplasia
Abnormal tracheal morphology ORPHA:2257
Atelosteogenesis Type I
Laryngotracheal stenosis ORPHA:1190
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Cerebrofacioarticular Syndrome
Tracheomalacia, Abnormal tracheal morphology ORPHA:314679
Pfeiffer Syndrome
Tracheal cartilaginous sleeve, Bronchomalacia OMIM:101600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Laryngotracheal stenosis ORPHA:508533
Congenital Tracheal Stenosis
Abnormal bronchus morphology, Tracheoesophageal fistula, Abnormal tracheobronchial morphology, Ab... ORPHA:141127
Congenital Tracheomalacia
Bronchomalacia, Anomalous tracheal cartilage, Tracheoesophageal fistula, Bronchiectasis, Tracheom... ORPHA:95430
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
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology ORPHA:93284
Microsporidiosis
Abnormal tracheal morphology ORPHA:2552
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology ORPHA:2396
Cerebrocostomandibular Syndrome
Anomalous tracheal cartilage OMIM:117650
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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