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Phenotypes Associated with This Genotype
Genotype
MGI:3581179
Allelic
Composition
Lystbg-J/Lystbg-J
Genetic
Background
C57BL/6J-Lystbg-J/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lystbg-J mutation (6 available); any Lyst mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• granulocytes are characterized by giant lysosomal sudanophilic granules (J:34814)
• granulocytes are characterized by giant lysosomal sudanophilic granules (J:34814)
• neutrophil lysosomal extracts have decreased elastase activity (J:34814)
• neutrophil lysosomal extracts have decreased elastase activity (J:34814)
• F4/80+ splenic macrophages are decreased in comparison to control (3.8% vs. 8.8%) (J:34814)
• F4/80+ splenic macrophages are decreased in comparison to control (3.8% vs. 8.8%) (J:34814)
• NK cell activity is decreased in comparison to B6 control (J:34814)
• NK cell activity is decreased in comparison to B6 control (J:34814)

hematopoietic system
• granulocytes are characterized by giant lysosomal sudanophilic granules (J:34814)
• granulocytes are characterized by giant lysosomal sudanophilic granules (J:34814)
• neutrophil lysosomal extracts have decreased elastase activity (J:34814)
• neutrophil lysosomal extracts have decreased elastase activity (J:34814)
• platelet ADP levels are much lower than in C57BL/6J controls (J:7327)
• platelet ADP levels are much lower than in C57BL/6J controls (J:7327)
• platelet ATP levels are much lower than in C57BL/6J controls (J:7327)
• platelet ATP levels are much lower than in C57BL/6J controls (J:7327)
• less than 1% of normal platelet serotonin levels (J:7327)
• less than 1% of normal platelet serotonin levels (J:7327)
• F4/80+ splenic macrophages are decreased in comparison to control (3.8% vs. 8.8%) (J:34814)
• F4/80+ splenic macrophages are decreased in comparison to control (3.8% vs. 8.8%) (J:34814)
• NK cell activity is decreased in comparison to B6 control (J:34814)
• NK cell activity is decreased in comparison to B6 control (J:34814)

homeostasis/metabolism
• less than 1% of normal platelet serotonin levels (J:7327)
• less than 1% of normal platelet serotonin levels (J:7327)
• bleed time averaging over 11 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls (J:7327)
• bleed time averaging over 11 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls (J:7327)

cellular
• thrombin stimulation of platelets results in approximately half normal levels of secretion of beta-glucuronidase and beta-galactosidase (J:7327)
• thrombin stimulation of platelets results in approximately half normal levels of secretion of beta-glucuronidase and beta-galactosidase (J:7327)

vision/eye
N
• do not develop glaucoma (J:173521)
• no optic nerve damage (J:173521)
• do not develop glaucoma (J:173521)
• no optic nerve damage (J:173521)
• accumulation of pigment and debris (J:173521)
• accumulation of pigment and debris (J:173521)
• enlarged melanosomes present (J:173521)
• enlarged melanosomes present (J:173521)
• iris pigment is very dark and dispersed (J:141035)
• iris pigment is very dark and dispersed (J:141035)
• dark gray (J:173521)
• dark gray (J:173521)
• pronounced pigment dispersion by 3 months (J:173521)
• sawtooth-like morphology of iris pigment (J:173521)
• pronounced pigment dispersion by 3 months (J:173521)
• sawtooth-like morphology of iris pigment (J:173521)
• anterior iris stroma thinned (J:173521)
• concentric periodic iris transillumination (J:173521)
• anterior iris stroma thinned (J:173521)
• concentric periodic iris transillumination (J:173521)
• dysmorphic iris stroma (J:173521)
• dysmorphic iris stroma (J:173521)
• accumulation of exfoliated materials throughout the anterior chamber (J:173521)
• pigment engulfed macrophage and enlarged melanosomes (J:173521)
• accumulation of exfoliated materials throughout the anterior chamber (J:173521)
• pigment engulfed macrophage and enlarged melanosomes (J:173521)

behavior/neurological
• mice exhibit an inverted optokinetic nystagmus in response to stimulation of only the temporal retina (J:29747)
• mice exhibit eye movements with a vertical component in response to horizontally moving, full-field stimuli (J:29747)
• mice exhibit an inverted optokinetic nystagmus in response to stimulation of only the temporal retina (J:29747)
• mice exhibit eye movements with a vertical component in response to horizontally moving, full-field stimuli (J:29747)
• fine sustained tremors are observed by 17 months of age (J:15166)
• fine sustained tremors are observed by 17 months of age (J:15166)
• obvious by 17 months of age (J:15166)
• obvious by 17 months of age (J:15166)
• mice lose the ability to swim by 17 months of age (J:15166)
• mice lose the ability to swim by 17 months of age (J:15166)
• motor weakness is noticeable in the hind legs by 17 months of age (J:15166)
• motor weakness is noticeable in the hind legs by 17 months of age (J:15166)
• an impaired gait is obvious by 17 months of age (J:15166)
• an impaired gait is obvious by 17 months of age (J:15166)

nervous system
• there is a complete or nearly complete loss of cells in mice showing neurological symptoms by 17 months of age (J:15166)
• mice in the second year of life and without abnormal neurological behavior have a significant reduction of cells (J:15166)
• there is a complete or nearly complete loss of cells in mice showing neurological symptoms by 17 months of age (J:15166)
• mice in the second year of life and without abnormal neurological behavior have a significant reduction of cells (J:15166)

hearing/vestibular/ear
• mice exhibit an inverted optokinetic nystagmus in response to stimulation of only the temporal retina (J:29747)
• mice exhibit eye movements with a vertical component in response to horizontally moving, full-field stimuli (J:29747)
• mice exhibit an inverted optokinetic nystagmus in response to stimulation of only the temporal retina (J:29747)
• mice exhibit eye movements with a vertical component in response to horizontally moving, full-field stimuli (J:29747)

pigmentation
• enlarged melanosomes present (J:173521)
• enlarged melanosomes present (J:173521)
• iris pigment is very dark and dispersed (J:141035)
• iris pigment is very dark and dispersed (J:141035)
• dark gray (J:173521)
• dark gray (J:173521)
• pronounced pigment dispersion by 3 months (J:173521)
• sawtooth-like morphology of iris pigment (J:173521)
• pronounced pigment dispersion by 3 months (J:173521)
• sawtooth-like morphology of iris pigment (J:173521)


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