Phenotypes Associated with This Genotype

Genotype
MGI:4947966

• Allelic Composition: Csrp3^tm1.1Rkn/Csrp3^tm1.1Rkn
• Genetic Background: either: (involves: Black Swiss) or (involves: C57BL/6N)

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

mortality/aging

premature death ( J:170878 )

• lifespan is 24 to 28 months

cardiovascular system

abnormal heart morphology ( J:170878 )

• mice exhibit an increased posterior wall compared with wild-type mice

myocardial fiber disarray ( J:170878 )

• myofibers exhibit nonparallel arrangement of cardiomyocytes compared to in wild-type mice

abnormal heart septum morphology ( J:170878 )

• at 12 to 14 months, mice develop septal hypertrophy unlike wild-type mice

increased heart weight ( J:170878 )

• heart weight relative to body weight is increased compared to in wild-type mice

abnormal heart ventricle morphology ( J:170878 )

• under stressed conditions, mice fail to exhibit a decreased in left ventricle end-systolic and end-diastolic volumes or an increased in ejection fraction and left ventricle contractility compared with wild-type mice

increased heart left ventricle weight ( J:170878 )

cardiac fibrosis ( J:170878 )

increased cardiac muscle contractility ( J:170878 )

• mice exhibit increased fractional shortening compared with wild-type mice

decreased response of heart to induced stress ( J:170878 )

• in response to adrenalin-induced hemodynamic stress, mice fail to exhibit increased myocardial function unlike similarly treated wild-type mice

cardiomyopathy ( J:170878 )

• severe hypertrophic cardiomyopathy

growth/size/body

increased heart weight ( J:170878 )

• heart weight relative to body weight is increased compared to in wild-type mice

decreased body weight ( J:170878 )

increased lung weight ( J:170878 )

• lung weight relative to body weight is increased compared to in wild-type mice

homeostasis/metabolism

decreased response of heart to induced stress ( J:170878 )

• in response to adrenalin-induced hemodynamic stress, mice fail to exhibit increased myocardial function unlike similarly treated wild-type mice

muscle

myocardial fiber disarray ( J:170878 )

• myofibers exhibit nonparallel arrangement of cardiomyocytes compared to in wild-type mice

increased cardiac muscle contractility ( J:170878 )

• mice exhibit increased fractional shortening compared with wild-type mice

cardiomyopathy ( J:170878 )

• severe hypertrophic cardiomyopathy

abnormal skeletal muscle fiber morphology ( J:170878 )

• under relaxing conditions, mice exhibit decreased fiber stiffness at low and high ionic strengths compared with wild-type mice

increased variability of skeletal muscle fiber size ( J:170878 )

myopathy ( J:170878 )

• mild

respiratory system

increased lung weight ( J:170878 )

• lung weight relative to body weight is increased compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 12		DOID:0110318	OMIM:612124	J:170878