Phenotypes Associated with This Genotype

Genotype
MGI:3588316

• Allelic Composition: Lyst^bg/Lyst^bg
• Genetic Background: B6.C3Rl-Lyst^bg/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

abnormal lysosome morphology ( J:6629 )

• light and electron microscopic cytochemistry of cultured fibroblasts shows large dense bodies have an origin through fusion of lysosomes

abnormal lysosome physiology ( 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

immune system

abnormal NK cell physiology ( J:6801 )

• lower natural killer cell activity

increased susceptibility to parasitic infection ( J:6946 )

• 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

abnormal lung development ( J:149728 )

impaired lung alveolus development ( J:149728 )

• alveolar maturation is impaired, resulting in abnormally large alveoli

emphysema ( J:149728 )

hematopoietic system

abnormal NK cell physiology ( J:6801 )

• lower natural killer cell activity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Chediak-Higashi syndrome		DOID:2935	OMIM:214500	J:6801