Mouse Genome Informatics
hm
    Lmnatm1Stw/Lmnatm1Stw
involves: 129S1/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• all die by 8 weeks of age

cellular
• in MEFs, nuclei appear elongated or irregular with loss of B-type lamins from 1 pole, slight clustering of nuclear pore complexes, and loss of emerin from the nuclear envelope into the cytoplasm
• in MEFs and hepatocytes, patchy thinning or loss of heterochromatin from the nuclear face of the inner nuclear membrane is seen and these regions also lack identifiable nuclear pore complexes
• the nuclear envelope is more easily fragmented during isolation

growth/size
• at 4 weeks, mean body weight is about 50% of wild-type and heterozygous littermates
• growth retardation is seen by 2-3 weeks of age and growth ceases by 4 weeks of age

muscle
• muscles surrounding the femur and perivertebral muscles are dystrophic while cardiac muscle is variably affected with ventricular muscle more severely impaired; however, muscles in the head, tongue and diaphragm are relatively normal
• muscle fibers are variably affected with those closer to the bone being more severely impaired
• no elevation of serum creatine kinase levels are detected
• in the heart, some ventricular myocytes show signs of degeneration often associated with patchy mineralization

behavior/neurological
• at 3-4 weeks mice have reduced grip strength
• at 3-4 weeks mice display a stiff walking posture with splayed hind legs

skeleton
• progressive kyphoscoliosis starting around 3-4 weeks of age

adipose tissue
• absence of white fat

nervous system
• sciatic nerve axon density is reduced, axon diameter is increased, and nonmyelinated axons are present
• sciatic nerve axon density is reduced, axon diameter is increased, and nonmyelinated axons are presen
• nonmyelinated axons are present in the sciatic nerve

immune system
• probably secondary to physiological stress
• probably secondary to physiological stress

hematopoietic system
• probably secondary to physiological stress
• probably secondary to physiological stress

endocrine/exocrine glands
• probably secondary to physiological stress

Mouse Models of Human Disease
OMIM IDRef(s)
Cardiomyopathy, Dilated, 1A; CMD1A 115200 J:87613 , J:131905
Charcot-Marie-Tooth Disease, Axonal, Type 2B1; CMT2B1 605588 J:75378
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant; EDMD2 181350 J:58702