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Phenotypes Associated with This Genotype
Genotype
MGI:5565354
Allelic
Composition
Cacna1htm1Kcam/Cacna1htm1Kcam
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1htm1Kcam mutation (2 available); any Cacna1h mutation (98 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice emit an intermittent, high-pitched chirping sound

respiratory system
• cartilaginous rings of the trachea are frequently disrupted anteriorly, resembling an arch missing its keystone, thus collapsing the transverse diameter of the tracheal airway
• mean number of disrupted cartilaginous rings is around 9.95
• abnormal tracheal rings are seen at both E14.5 and P1 and almost all the cartilage rings are disrupted at these times, indicating congenital tracheal malformations
• however, cartilage ring pattern in the bronchi, cricoid cartilage and cartilages from the xiphistemum, ear, nose and articular cartilage are normal
• tracheas are narrow and elliptically shaped, with the long axis oriented in the anterior-posterior direction

skeleton
• cartilaginous rings of the trachea are frequently disrupted anteriorly, resembling an arch missing its keystone, thus collapsing the transverse diameter of the tracheal airway
• mean number of disrupted cartilaginous rings is around 9.95
• abnormal tracheal rings are seen at both E14.5 and P1 and almost all the cartilage rings are disrupted at these times, indicating congenital tracheal malformations
• however, cartilage ring pattern in the bronchi, cricoid cartilage and cartilages from the xiphistemum, ear, nose and articular cartilage are normal
• embryonic limb bud mesenchymal cells undergo chondrogenic differentiation in cell culture to a less extent than wild-type mesenchymal cells
• marker analysis indicates that condensation of chondroprogenitor cells in the trachea is disrupted


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory