Phenotypes Associated with This Genotype

Genotype
MGI:3784690

• Allelic Composition: Lyst^bg-Lac/Lyst^bg-Lac
• Genetic Background: CBA/CaLac-Lyst^bg-Lac

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

hematopoietic system

absent NK T cells ( J:29745 )

• no evidence of NK cells is observed

immune system

absent NK T cells ( J:29745 )

• no evidence of NK cells is observed

cellular

abnormal lysosome morphology ( J:29745 )

• large granules like those associated with Chediak-Higashi Syndrome are observed

craniofacial

decreased ear pigmentation ( J:29745 )

• pigmentation is reduced, much lighter than normal

hearing/vestibular/ear

decreased ear pigmentation ( J:29745 )

• pigmentation is reduced, much lighter than normal

limbs/digits/tail

decreased tail pigmentation ( J:29745 )

• pigmentation is reduced, appearing much lighter than normal

pigmentation

decreased ear pigmentation ( J:29745 )

• pigmentation is reduced, much lighter than normal

diluted coat color ( J:29745 )

• the coat appears grey on this background

decreased tail pigmentation ( J:29745 )

• pigmentation is reduced, appearing much lighter than normal

abnormal eye pigmentation ( J:29745 )

• eyes are light at birth, varying from ruby to almost black in adults

decreased eye pigmentation ( J:29745 )

vision/eye

abnormal eye pigmentation ( J:29745 )

• eyes are light at birth, varying from ruby to almost black in adults

decreased eye pigmentation ( J:29745 )

integument

decreased ear pigmentation ( J:29745 )

• pigmentation is reduced, much lighter than normal

diluted coat color ( J:29745 )

• the coat appears grey on this background

decreased tail pigmentation ( J:29745 )

• pigmentation is reduced, appearing much lighter than normal

growth/size/body

decreased ear pigmentation ( J:29745 )

• pigmentation is reduced, much lighter than normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Chediak-Higashi syndrome		DOID:2935	OMIM:214500	J:29745