pigmentation
• by the end of hair follicle morphogenesis, the coat of mutants is grey due to intermingling or nonpigmented or scarcely pigmented hair fibers with black hairs
|
• fusions of melanosomes of various maturation stages are found
|
• melanocytes in the iris contain melanosomes of different stages of maturation side by side
|
• mutant melanosomes are larger and irregularly shaped; melanocytes contain melanosomes of different stages of maturation
|
• melanocytes in the choroid of the eye are irregular in shape and larger than controls
|
• melanosomes are larger and irregularly shaped compared with control mice
|
• compared with wild-type, hair folicle and choroid melanocytes are larger and irregulary shaped
|
• melanosomes of hair follicles are larger and irregular in shape compared to wild-type
|
• melanosomes of hair follicles are larger and irregular in shape compared to wild-type
|
vision/eye
• fusions of melanosomes of various maturation stages are found
|
• melanocytes in the iris contain melanosomes of different stages of maturation side by side
|
• mutant melanosomes are larger and irregularly shaped; melanocytes contain melanosomes of different stages of maturation
|
hematopoietic system
• in mutants, the secretory granules in dermal mast cells are larger and of different sizes, while in wild-type they are of smaller, uniform size
|
immune system
• in mutants, the secretory granules in dermal mast cells are larger and of different sizes, while in wild-type they are of smaller, uniform size
|
integument
• melanosomes are larger and irregularly shaped compared with control mice
|
• melanosomes of hair follicles are larger and irregular in shape compared to wild-type
|
• melanosomes of hair follicles are larger and irregular in shape compared to wild-type
|
• by the end of hair follicle morphogenesis, the coat of mutants is grey due to intermingling or nonpigmented or scarcely pigmented hair fibers with black hairs
|
• in mutants, the secretory granules in dermal mast cells are larger and of different sizes, while in wild-type they are of smaller, uniform size
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Chediak-Higashi syndrome | DOID:2935 |
OMIM:214500 |
J:106442 |