Mouse Genome Informatics
hm
    Glb1tm1Jmat/Glb1tm1Jmat
involves: C57BL/6 * CBA * ICR
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• death occurs between 7 and 10 months of age

behavior/neurological
• difficulty feeding
• when hung upside down by the tail, all four limbs are flexed, earliest appearance involves hind limbs only
• shaking becomes progressively worse
• rearing and climbing activity becomes less frequent after 4 months of age
• gradually decreasing locomotor activity after 4 months of age
• horizontal movements become slow
• gait disturbances by 6-8 months of age
• mild shaking
• often totter with forelimbs flexed and with hind limbs extended and extroverted, tail raised straight upward
• generalized and progressive paralysis

growth/size
• become emaciated due to difficulty eating
• half normal body weight at death

reproductive system
• higher incidence of sterility and canibalism
• about half of homozygous pairs able to produce at least one litter
• can be maintained as a homozygous stock

nervous system
• 20-30X normal levels of Gm1 gangliosides
• severe gliosis at 32 weeks of age
• first in brain stem then throughout the brain
• ballooning neurons in the central nervous system (J:40522)
• areas of degenerating neurons although brain size and weight are normal (J:43534)
• fine granules in some spinal cord neurons at 3 days of age (J:102576)
• ballooned neurons most extensive at 24 weeks of age and later (J:102576)
• vacuolated neurons in brain stem and spinal cord at 1-2 weeks of age (J:102576)
• vacuolation and ballooning at 8 weeks of age but less cytoplasmic expansion than in other areas of the brain (J:102576)

liver/biliary system
• vacuolation and ballooning of hepatocytes at 2 weeks of age
• liver size smaller than normal

immune system
• infiltrations of foamy macrophage in thymus, spleen, sub mucosal layer of intestine, and liver after 4 weeks of age
• vacuolated lymphocytes in peripheral blood
• somewhat smaller than normal as opposed to expected splenomegaly

renal/urinary system
• ballooning of glomerular cells in kidney starting between 2 and 4 weeks of age

skeleton
N
• no skeletal dysplasia (J:43534)

hematopoietic system
• infiltrations of foamy macrophage in thymus, spleen, sub mucosal layer of intestine, and liver after 4 weeks of age
• vacuolated lymphocytes in peripheral blood
• somewhat smaller than normal as opposed to expected splenomegaly

cellular
• infiltrations of foamy macrophage in thymus, spleen, sub mucosal layer of intestine, and liver after 4 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Gm1-Gangliosidosis, Type II 230600 J:40522 , J:43534
Spastic Diplegia, Infantile Type 270600 J:40522 , J:43534