Mouse Genome Informatics
hm
    Ldb3tm1Chen/Ldb3tm1Chen
involves: 129S1/Sv * 129X1/SvJ * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Ventricular dilation in Ldb3tm1Chen/Ldb3tm1Chen hearts

mortality/aging
• most mice died within 24 hours of birth
• some mice survived until 5 days after birth

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

cardiovascular system
• blood congestion in the heart
• cardiac muscle displays disorganized and fragmented Z-lines at E17.5
• Z- and M-lines are completely absent in cardiac muscle at P1

homeostasis/metabolism

muscle
• skeletal muscle displays disorganized and fragmented Z-lines at P1 (in contracting muscle), but appears normal at E17.5 (noncontracting muscle)
• exhibit symptoms of muscle weakness, including decreased milk intake, minimal limb motility and respiratory distress

respiratory system

digestive/alimentary system
• have little or no milk in stomach, indicating reduced milk intake

Mouse Models of Human Disease
OMIM IDRef(s)
Myopathy, Congenital 255300 J:72799
Myopathy, Myofibrillar, 1; MFM1 601419 J:72799