Phenotypes Associated with This Genotype

Genotype
MGI:3779036

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

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

pigmentation

decreased ear pigmentation ( J:133616 )

• the ears of homozygous mutant mice are light pink to white

diluted coat color ( J:133616 )

• mice homozygous for this mutation have a uniformly dark gray coat color

abnormal foot pigmentation ( J:133616 )

• the feet of homozygous mutant mice are light pink to white

decreased tail pigmentation ( J:133616 )

• the tails of homozygous mutant mice are light pink to white

craniofacial

decreased ear pigmentation ( J:133616 )

• the ears of homozygous mutant mice are light pink to white

hearing/vestibular/ear

decreased ear pigmentation ( J:133616 )

• the ears of homozygous mutant mice are light pink to white

limbs/digits/tail

decreased tail pigmentation ( J:133616 )

• the tails of homozygous mutant mice are light pink to white

immune system

abnormal NK cell physiology ( J:133616 )

• NK cells from homozygous souris mice fail to degranulate following antibody stimulation of NKp46 or Ly49H receptors or after exposure to YAC-1 cells or PMA/ionomycin

• intracellular production of interferon gamma (IFN-gamma) by homozygous mutant NK cells is normal after stimulation by PMA/ionomycin

increased susceptibility to bacterial infection ( J:133616 )

• souris homozygotes are susceptible to infection by Lysteria monocytogenes

increased susceptibility to Herpesvirales infection ( J:133616 )

• homozygous souris mutant mice are highly susceptible to infection by mouse cytomegalovirus (MCMV), exhibiting a high splenic viral titer 5 days after infection

integument

decreased ear pigmentation ( J:133616 )

• the ears of homozygous mutant mice are light pink to white

diluted coat color ( J:133616 )

• mice homozygous for this mutation have a uniformly dark gray coat color

abnormal foot pigmentation ( J:133616 )

• the feet of homozygous mutant mice are light pink to white

decreased tail pigmentation ( J:133616 )

• the tails of homozygous mutant mice are light pink to white

hematopoietic system

abnormal NK cell physiology ( J:133616 )

• NK cells from homozygous souris mice fail to degranulate following antibody stimulation of NKp46 or Ly49H receptors or after exposure to YAC-1 cells or PMA/ionomycin

• intracellular production of interferon gamma (IFN-gamma) by homozygous mutant NK cells is normal after stimulation by PMA/ionomycin

growth/size/body

decreased ear pigmentation ( J:133616 )

• the ears of homozygous mutant mice are light pink to white

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Chediak-Higashi syndrome		DOID:2935	OMIM:214500	J:133616