Mouse Genome Informatics
hm1
    Lystbg-Btlr/Lystbg-Btlr
C57BL/6J-Lystbg-Btlr
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
• the ears of homozygous mutant mice are light pink to white
• mice homozygous for this mutation have a uniformly dark gray coat color
• the feet of homozygous mutant mice are light pink to white
• the tails of homozygous mutant mice are light pink to white

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

hearing/vestibular/ear
• the ears of homozygous mutant mice are light pink to white

limbs/digits/tail
• the tails of homozygous mutant mice are light pink to white

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

integument
• the ears of homozygous mutant mice are light pink to white
• mice homozygous for this mutation have a uniformly dark gray coat color
• the feet of homozygous mutant mice are light pink to white
• the tails of homozygous mutant mice are light pink to white

hematopoietic system
• 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

Mouse Models of Human Disease
OMIM IDRef(s)
Chediak-Higashi Syndrome; CHS 214500 J:133616