Phenotypes Associated with This Genotype

Genotype
MGI:2652059

• Allelic Composition: Ldb3^tm1Chen/Ldb3^tm1Chen
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Black Swiss

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

Ventricular dilation in Ldb3^tm1Chen/Ldb3^tm1Chen hearts

mortality/aging

neonatal lethality, incomplete penetrance ( J:72799 )

• most mice died within 24 hours of birth

postnatal lethality, complete penetrance ( J:72799 )

• some mice survived until 5 days after birth

behavior/neurological

dysphagia ( J:72799 )

• have little or no milk in stomach, indicating reduced milk intake

impaired limb coordination ( J:72799 )

cardiovascular system

heart vascular congestion ( J:72799 )

• blood congestion in the heart

abnormal myocardium layer morphology ( J:72799 )

• cardiac muscle displays disorganized and fragmented Z-lines at E17.5

• Z- and M-lines are completely absent in cardiac muscle at P1

dilated heart left ventricle ( J:72799 )

dilated heart right ventricle ( J:72799 )

homeostasis/metabolism

cyanosis ( J:72799 )

muscle

abnormal myocardium layer morphology ( J:72799 )

• cardiac muscle displays disorganized and fragmented Z-lines at E17.5

• Z- and M-lines are completely absent in cardiac muscle at P1

abnormal skeletal muscle morphology ( J:72799 )

• skeletal muscle displays disorganized and fragmented Z-lines at P1 (in contracting muscle), but appears normal at E17.5 (noncontracting muscle)

muscle weakness ( J:72799 )

• exhibit symptoms of muscle weakness, including decreased milk intake, minimal limb motility and respiratory distress

myopathy ( J:72799 )

respiratory system

respiratory distress ( J:72799 )

digestive/alimentary system

dysphagia ( J:72799 )

• have little or no milk in stomach, indicating reduced milk intake

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital myopathy		DOID:0081337		J:72799
myofibrillar myopathy 1		DOID:0080092	OMIM:601419	J:72799