Phenotypes associated with this allele

• Allele Symbol: Cacna1h^tm1Kcam
• Allele Name: targeted mutation 1, Kevin P Campbell
• Allele ID: MGI:2682015
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna1h^tm1Kcam/Cacna1h^tm1Kcam	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:2682060
hm2	Cacna1h^tm1Kcam/Cacna1h^tm1Kcam	involves: 129S1/Sv * 129X1/SvJ * ICR	MGI:5565354

Genotype
MGI:2682060

hm1

• Allelic Composition: Cacna1h^tm1Kcam/Cacna1h^tm1Kcam
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

abnormal cardiovascular system morphology ( J:86616 )

abnormal blood vessel morphology ( J:86616 )

• vessels in the heart have irregular spiral shapes

abnormal arteriole morphology ( J:86616 )

• exhibit constitutively constricted coronary arterioles

abnormal myocardial fiber morphology ( J:86616 )

• focal myocardial fibrosis

cardiac fibrosis ( J:86616 )

• exhibit progressive cardiac fibrosis starting at 10 weeks of age; hearts show large areas of fibrosis, necrosis, and lymphoctye infiltration

increased vasoconstriction ( J:86616 )

• vessels in the heart and coronary arterioles are constitutively contracted

• isolated coronary arteries show normal contractile responses but show reduced relaxation in response to acetylcholine and ntiroprusside

growth/size/body

decreased body size ( J:86616 )

• both males and females are smaller

nervous system

abnormal channel response ( J:86616 )

• the low voltage-activated calcium current (I_T is significantly diminished in dorsal root ganglia neurons, however no difference in the high voltage-activated calcium currents

muscle

abnormal myocardial fiber morphology ( J:86616 )

• focal myocardial fibrosis

increased vasoconstriction ( J:86616 )

• vessels in the heart and coronary arterioles are constitutively contracted

• isolated coronary arteries show normal contractile responses but show reduced relaxation in response to acetylcholine and ntiroprusside

Genotype
MGI:5565354

hm2

• Allelic Composition: Cacna1h^tm1Kcam/Cacna1h^tm1Kcam
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

behavior/neurological

abnormal vocalization ( J:208830 )

• mice emit an intermittent, high-pitched chirping sound

respiratory system

abnormal tracheal cartilage morphology ( J:208830 )

• 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

trachea stenosis ( J:208830 )

• tracheas are narrow and elliptically shaped, with the long axis oriented in the anterior-posterior direction

skeleton

abnormal tracheal cartilage morphology ( J:208830 )

• 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

abnormal cartilage development ( J:208830 )

• 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