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
Tracheal Agenesis
Tracheal atresia ORPHA:3346
Tracheobronchopathia Osteochondroplastica
Abnormal bronchus morphology, Tracheal calcification, Tracheal stenosis, Calcification of cartila... 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
Jung Syndrome
Tracheal stenosis ORPHA:2321
Tracheobronchomegaly
Diverticulosis of trachea, Bronchiectasis OMIM:275300
Keutel Syndrome
Calcification of cartilage, Tracheal atresia 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
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis, Wide anterior fontanel, Tracheomalacia OMIM:217980
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Diastrophic Dysplasia
Costal cartilage calcification, Laryngotracheal stenosis OMIM:222600
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis, Abnormal tracheobronchial morphology ORPHA:1790
Chops Syndrome
Tracheal stenosis OMIM:616368
Laryngomalacia
Abnormal tracheal morphology OMIM:150280
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Hurler-Scheie Syndrome
Tracheal stenosis OMIM:607015
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Tracheal calcification OMIM:302960
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Abnormal bronchus morphology ORPHA:93352
Vacterl/Vater Association
Tracheal stenosis, Tracheoesophageal fistula ORPHA:887
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Brachytelephalangic Chondrodysplasia Punctata
Tracheal stenosis, Tracheal calcification, Abnormal bronchus morphology ORPHA:79345
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia OMIM:245650
Hydrolethalus
Tracheal atresia ORPHA:2189
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis ORPHA:3301
Fraser Syndrome 3
Tracheal atresia OMIM:617667
Larsen Syndrome
Tracheal stenosis, Spina bifida occulta, Tracheomalacia, Bronchomalacia OMIM:150250
Geleophysic Dysplasia 3
Tracheal stenosis OMIM:617809
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Tracheal stenosis ORPHA:2637
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
Frontometaphyseal Dysplasia 2
Tracheal stenosis OMIM:617137
Smith-Lemli-Opitz Syndrome
Tracheal stenosis ORPHA:818
Ollier Disease
Abnormal cartilage morphology, Multiple enchondromatosis ORPHA:296
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Laryngotracheal stenosis ORPHA:142
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Cardiocranial Syndrome, Pfeiffer Type
Abnormal tracheal morphology ORPHA:2872
Recurrent Respiratory Papillomatosis
Abnormal tracheal morphology, Tracheomalacia ORPHA:60032
Hydrolethalus Syndrome 1
Tracheal stenosis OMIM:236680
Fraser Syndrome
Tracheal stenosis ORPHA:2052
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
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Atelosteogenesis Type I
Laryngotracheal stenosis ORPHA:1190
Primary Pulmonary Hypoplasia
Abnormal tracheal morphology ORPHA:2257
Cerebrofacioarticular Syndrome
Abnormal tracheal morphology, Tracheomalacia ORPHA:314679
Congenital Tracheal Stenosis
Abnormal tracheal morphology, Tracheoesophageal fistula, Abnormal tracheobronchial morphology, Ab... ORPHA:141127
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Laryngotracheal stenosis ORPHA:508533
Congenital Tracheomalacia
Tracheomalacia, Tracheoesophageal fistula, Bronchiectasis, Anomalous tracheal cartilage, Tracheob... ORPHA:95430
X-Linked Dominant Chondrodysplasia Punctata
Anomalous tracheal cartilage ORPHA:35173
Glomuvenous Malformation
Abnormal tracheal morphology ORPHA:83454
Myhre Syndrome
Laryngotracheal stenosis OMIM:139210
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology ORPHA:93284
Apert Syndrome
Anomalous tracheal cartilage OMIM:101200
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.

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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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