Phenotypes Associated with This Genotype

Genotype
MGI:3620975

• Allelic Composition: Lyst^bg-grey/Lyst^bg-grey
• Genetic Background: C57BL/6-Lyst^bg-grey

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

Morphologic investigation of Lyst^bg-grey/Lyst^bg-grey and +/+ wild-type mice.

pigmentation

diluted coat color ( J:106442 )

• 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

abnormal iris pigment epithelium ( J:106442 )

• fusions of melanosomes of various maturation stages are found

abnormal iris pigmentation ( J:106442 )

• melanocytes in the iris contain melanosomes of different stages of maturation side by side

abnormal retina pigment epithelium morphology ( J:106442 )

• mutant melanosomes are larger and irregularly shaped; melanocytes contain melanosomes of different stages of maturation

abnormal melanocyte morphology ( J:106442 )

• melanocytes in the choroid of the eye are irregular in shape and larger than controls

abnormal hair follicle melanocyte morphology ( J:106442 )

• melanosomes are larger and irregularly shaped compared with control mice

abnormal melanosome morphology ( J:106442 )

• compared with wild-type, hair folicle and choroid melanocytes are larger and irregulary shaped

absent hair follicle melanin granules ( J:106442 )

• melanosomes of hair follicles are larger and irregular in shape compared to wild-type

enlarged hair follicle melanin granules ( J:106442 )

• melanosomes of hair follicles are larger and irregular in shape compared to wild-type

vision/eye

abnormal iris pigment epithelium ( J:106442 )

• fusions of melanosomes of various maturation stages are found

abnormal iris pigmentation ( J:106442 )

• melanocytes in the iris contain melanosomes of different stages of maturation side by side

abnormal retina layer morphology ( J:106442 )

abnormal retina pigment epithelium morphology ( J:106442 )

• mutant melanosomes are larger and irregularly shaped; melanocytes contain melanosomes of different stages of maturation

hematopoietic system

abnormal dermal mast cell morphology ( J:106442 )

• 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

abnormal dermal mast cell morphology ( J:106442 )

• 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

abnormal hair follicle melanocyte morphology ( J:106442 )

• melanosomes are larger and irregularly shaped compared with control mice

absent hair follicle melanin granules ( J:106442 )

• melanosomes of hair follicles are larger and irregular in shape compared to wild-type

enlarged hair follicle melanin granules ( J:106442 )

• melanosomes of hair follicles are larger and irregular in shape compared to wild-type

diluted coat color ( J:106442 )

• 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

abnormal skin morphology ( J:106442 )

abnormal dermal layer morphology ( J:106442 )

abnormal dermal mast cell morphology ( J:106442 )

• 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