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Phenotypes Associated with This Genotype
Genotype
MGI:2652059
Allelic
Composition
Ldb3tm1Chen/Ldb3tm1Chen
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ldb3tm1Chen mutation (0 available); any Ldb3 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ventricular dilation in Ldb3tm1Chen/Ldb3tm1Chen hearts

mortality/aging
• most mice died within 24 hours of birth (J:72799)
• most mice died within 24 hours of birth (J:72799)
• some mice survived until 5 days after birth (J:72799)
• some mice survived until 5 days after birth (J:72799)

behavior/neurological
• have little or no milk in stomach, indicating reduced milk intake (J:72799)
• have little or no milk in stomach, indicating reduced milk intake (J:72799)

cardiovascular system
• blood congestion in the heart (J:72799)
• blood congestion in the heart (J:72799)
• cardiac muscle displays disorganized and fragmented Z-lines at E17.5 (J:72799)
• Z- and M-lines are completely absent in cardiac muscle at P1 (J:72799)
• cardiac muscle displays disorganized and fragmented Z-lines at E17.5 (J:72799)
• Z- and M-lines are completely absent in cardiac muscle at P1 (J:72799)

homeostasis/metabolism

muscle
• skeletal muscle displays disorganized and fragmented Z-lines at P1 (in contracting muscle), but appears normal at E17.5 (noncontracting muscle) (J:72799)
• skeletal muscle displays disorganized and fragmented Z-lines at P1 (in contracting muscle), but appears normal at E17.5 (noncontracting muscle) (J:72799)
• exhibit symptoms of muscle weakness, including decreased milk intake, minimal limb motility and respiratory distress (J:72799)
• exhibit symptoms of muscle weakness, including decreased milk intake, minimal limb motility and respiratory distress (J:72799)

respiratory system

digestive/alimentary system
• have little or no milk in stomach, indicating reduced milk intake (J:72799)
• have little or no milk in stomach, indicating reduced milk intake (J:72799)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory