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Phenotypes Associated with This Genotype
Genotype
MGI:3640134
Allelic
Composition
Glb1tm1Jmat/Glb1tm1Jmat
Genetic
Background
involves: C57BL/6 * CBA * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Glb1tm1Jmat mutation (0 available); any Glb1 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death occurs between 7 and 10 months of age (J:43534)
• death occurs between 7 and 10 months of age (J:43534)

behavior/neurological
• difficulty feeding (J:43534)
• difficulty feeding (J:43534)
• when hung upside down by the tail, all four limbs are flexed, earliest appearance involves hind limbs only (J:43534)
• when hung upside down by the tail, all four limbs are flexed, earliest appearance involves hind limbs only (J:43534)
• shaking becomes progressively worse (J:43534)
• shaking becomes progressively worse (J:43534)
• rearing and climbing activity becomes less frequent after 4 months of age (J:43534)
• rearing and climbing activity becomes less frequent after 4 months of age (J:43534)
• gradually decreasing locomotor activity after 4 months of age (J:43534)
• horizontal movements become slow (J:43534)
• gradually decreasing locomotor activity after 4 months of age (J:43534)
• horizontal movements become slow (J:43534)
• gait disturbances by 6-8 months of age (J:43534)
• mild shaking (J:43534)
• often totter with forelimbs flexed and with hind limbs extended and extroverted, tail raised straight upward (J:43534)
• gait disturbances by 6-8 months of age (J:43534)
• mild shaking (J:43534)
• often totter with forelimbs flexed and with hind limbs extended and extroverted, tail raised straight upward (J:43534)
• generalized and progressive paralysis (J:43534)
• generalized and progressive paralysis (J:43534)
(J:43534)
(J:43534)

growth/size/body
• become emaciated due to difficulty eating (J:43534)
• half normal body weight at death (J:43534)
• become emaciated due to difficulty eating (J:43534)
• half normal body weight at death (J:43534)

reproductive system
• higher incidence of sterility and canibalism (J:43534)
• about half of homozygous pairs able to produce at least one litter (J:43534)
• can be maintained as a homozygous stock (J:43534)
• higher incidence of sterility and canibalism (J:43534)
• about half of homozygous pairs able to produce at least one litter (J:43534)
• can be maintained as a homozygous stock (J:43534)

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

immune system
• infiltrations of foamy macrophage in thymus, spleen, sub mucosal layer of intestine, and liver after 4 weeks of age (J:102576)
• infiltrations of foamy macrophage in thymus, spleen, sub mucosal layer of intestine, and liver after 4 weeks of age (J:102576)
• vacuolated lymphocytes in peripheral blood (J:43534)
• vacuolated lymphocytes in peripheral blood (J:43534)
• somewhat smaller than normal as opposed to expected splenomegaly (J:43534)
• somewhat smaller than normal as opposed to expected splenomegaly (J:43534)

renal/urinary system
• ballooning of glomerular cells in kidney starting between 2 and 4 weeks of age (J:102576)
• ballooning of glomerular cells in kidney starting between 2 and 4 weeks of age (J:102576)

skeleton
N
• no skeletal dysplasia (J:43534)
• 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 (J:102576)
• infiltrations of foamy macrophage in thymus, spleen, sub mucosal layer of intestine, and liver after 4 weeks of age (J:102576)
• vacuolated lymphocytes in peripheral blood (J:43534)
• vacuolated lymphocytes in peripheral blood (J:43534)
• somewhat smaller than normal as opposed to expected splenomegaly (J:43534)
• somewhat smaller than normal as opposed to expected splenomegaly (J:43534)

cellular
• infiltrations of foamy macrophage in thymus, spleen, sub mucosal layer of intestine, and liver after 4 weeks of age (J:102576)
• infiltrations of foamy macrophage in thymus, spleen, sub mucosal layer of intestine, and liver after 4 weeks of age (J:102576)


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