Phenotypes Associated with This Genotype

Genotype
MGI:5286560

• Allelic Composition: Tg(Ckmm-Cav3)1Ysu/0
• Genetic Background: involves: C57BL/Slc * DBA/Slc

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

cardiovascular system

abnormal myocardial fiber morphology ( J:87692 )

• cardiac myofibers show marked size variability on both longitudinal and transverse sections when compared to controls

increased myocardial fiber size ( J:87692 )

• increased mean cardiac muscle fiber diameter

• hypertrophy of cardiac myofibers

thick interventricular septum ( J:87692 )

• transgenic mice at 6 weeks of age show thickening of the interventricular septum

increased heart weight ( J:87692 )

• increased cardiac weight at 4, 12, 24 and 36 weeks of age when compared with controls

• statistically significant increases in the cardiac weight-to-body weight ratio at 4, 12, 24 and 36 weeks of age when compared with controls

decreased heart left ventricle size ( J:87692 )

• small left ventricular chamber due to thickening of interventricular septum and left ventricle posterior wall at 6 weeks of age

thick ventricular wall ( J:87692 )

• thickening of the posterior wall of the left ventricle at 6 weeks of age

increased heart left ventricle muscle contractility ( J:87692 )

• hypercontractility (increased left ventricular fractional shortening)

abnormal heart echocardiography feature ( J:87692 )

• diastolic dysfunction (decreased left ventricular end diastolic diameter)

muscle

abnormal myocardial fiber morphology ( J:87692 )

• cardiac myofibers show marked size variability on both longitudinal and transverse sections when compared to controls

increased myocardial fiber size ( J:87692 )

• hypertrophy of cardiac myofibers

• increased mean cardiac muscle fiber diameter

increased variability of skeletal muscle fiber size ( J:67174 )

• at 6 weeks of age

centrally nucleated skeletal muscle fibers ( J:67174 )

• at 6 weeks of age

skeletal muscle fiber degeneration ( J:67174 )

skeletal muscle atrophy ( J:67174 )

• at 6 weeks of age

abnormal muscle physiology ( J:67174 )

• skeletal muscles exhibit increased neuronal nitric oxide synthase (nNOS) activity compared to in wild-type muscles

increased heart left ventricle muscle contractility ( J:87692 )

• hypercontractility (increased left ventricular fractional shortening)

myopathy ( J:67174 )

• at 6 weeks of age, mice exhibit myopathic features, including variation in fiber size, atrophic fibers, internally placed nuclei, and increased endomysium compared with wild-type mice

growth/size/body

increased heart weight ( J:87692 )

• increased cardiac weight at 4, 12, 24 and 36 weeks of age when compared with controls

• statistically significant increases in the cardiac weight-to-body weight ratio at 4, 12, 24 and 36 weeks of age when compared with controls

decreased body size ( J:67174 , J:87692 )

• at 6 weeks of age (J:67174)

• significantly smaller than controls at 4, 12, 24 and 36 weeks of age (J:87692)

postnatal growth retardation ( J:67174 , J:87692 )

• poor postnatal growth (J:87692)

skeleton

kyphosis ( J:67174 , J:87692 )

• at 6 weeks of age (J:67174)

• kyphosis of the spine from 12 weeks of age (J:87692)

behavior/neurological

hindlimb paralysis ( J:67174 , J:87692 )

• at 6 weeks of age (J:67174)

• paralysis of the hindlimbs from 12 weeks of age (J:87692)

homeostasis/metabolism

abnormal nitric oxide homeostasis ( J:67174 )

• skeletal muscles exhibit increased neuronal nitric oxide synthase (nNOS) activity compared to in wild-type muscles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy		DOID:11984		J:87692
rippling muscle disease 2		DOID:0060255	OMIM:606072	J:67174