Mouse Genome Informatics
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• light and electron microscopic cytochemistry of cultured fibroblasts shows large dense bodies have an origin through fusion of lysosomes
• significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts

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

respiratory system
• alveolar maturation is impaired, resulting in abnormally large alveoli

hematopoietic system
• lower natural killer cell activity

Mouse Models of Human Disease
Chediak-Higashi Syndrome; CHS 214500 J:6801