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Phenotypes Associated with This Genotype
Genotype
MGI:2682060
Allelic
Composition
Cacna1htm1Kcam/Cacna1htm1Kcam
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
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
cardiovascular system
• vessels in the heart have irregular spiral shapes
• exhibit constitutively constricted coronary arterioles
• focal myocardial fibrosis
• exhibit progressive cardiac fibrosis starting at 10 weeks of age; hearts show large areas of fibrosis, necrosis, and lymphoctye infiltration
• 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
• both males and females are smaller

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

muscle
• focal myocardial fibrosis
• 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


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
04/09/2024
MGI 6.23
The Jackson Laboratory