Phenotypes Associated with This Genotype

Genotype
MGI:6114152

• Allelic Composition: Cav3^tm1Ncnp/Cav3^tm1Ncnp
• Genetic Background: involves: 129S4/SvJae * C57BL/10

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

cardiovascular system

myocardial fiber disarray ( J:150127 )

• cardiac myocyte disorganization, where myocytes form in a criss-crossed fashion, overlapping one another

abnormal heart atrium morphology ( J:150127 )

• distention or separation of the myocardial and endocardial cell layers of the atria occurs at E17.5

abnormal atrium myocardial trabeculae morphology ( J:150127 )

• atrial trabecular formation is impaired such that trabeculae at E14.5 are short and stubby

thick ventricular wall ( J:150127 )

muscle

abnormal atrium myocardial trabeculae morphology ( J:150127 )

• atrial trabecular formation is impaired such that trabeculae at E14.5 are short and stubby

abnormal muscle development ( J:150127 )

• cultured embryonic muscle stem cells from E15.5 to E17.5 exhibit hyperproliferation and apoptosis

• Pax7+ skeletal muscle stem cell population is reduced and disorganized at E17.5

abnormal muscle fiber morphology ( J:150127 )

• myotubes are hypertrophic in E13.5-E17.5 muscles

• myonuclei of myotubes are closer together and exhibit severely disrupted myonuclei spacing and nuclei bunching, especially at the ends of myotubes, at E17.5

• only central nuclei (not peripheral) are present in E15.5 muscles

• myotubes contain 2x as many myonuclei as wild-type myotubes at E13.5-E17.5

• muscles exhibit an excess of myotubes at E13.5-E17.5

• however, no myotube fiber splitting is seen and intercostal myotubes are aligned correctly

myocardial fiber disarray ( J:150127 )

• cardiac myocyte disorganization, where myocytes form in a criss-crossed fashion, overlapping one another

centrally nucleated skeletal muscle fibers ( J:150127 )

• only central nuclei (not peripheral) are present in E15.5 muscles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rippling muscle disease 2		DOID:0060255	OMIM:606072	J:150127