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Phenotypes Associated with This Genotype
Genotype
MGI:3588316
Allelic
Composition
Lystbg/Lystbg
Genetic
Background
B6.C3Rl-Lystbg/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lystbg mutation (5 available); any Lyst mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• light and electron microscopic cytochemistry of cultured fibroblasts shows large dense bodies have an origin through fusion of lysosomes (J:6629)
• light and electron microscopic cytochemistry of cultured fibroblasts shows large dense bodies have an origin through fusion of lysosomes (J:6629)
• significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts (J:6801)
• significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts (J:6801)

immune system
• lower natural killer cell activity (J:6801)
• lower natural killer cell activity (J:6801)
• mutants fail to eliminate amastigotes of Leishmania donovani, the parasite causing leishmaniasis, from their spleens over 56 days (J:6946)
• however, similar levels of anti-leishmanial antibody are produced by mutants as in controls and mutants exhibit a normal response to Leishmania tropica infection (J:6946)
• mutants fail to eliminate amastigotes of Leishmania donovani, the parasite causing leishmaniasis, from their spleens over 56 days (J:6946)
• however, similar levels of anti-leishmanial antibody are produced by mutants as in controls and mutants exhibit a normal response to Leishmania tropica infection (J:6946)

respiratory system
• alveolar maturation is impaired, resulting in abnormally large alveoli (J:149429)
• alveolar maturation is impaired, resulting in abnormally large alveoli (J:149429)

hematopoietic system
• lower natural killer cell activity (J:6801)
• lower natural killer cell activity (J:6801)

Mouse Models of Human Disease
OMIM ID Ref(s)
Chediak-Higashi Syndrome; CHS 214500 J:6801


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