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Phenotypes Associated with This Genotype
Genotype
MGI:3779036
Allelic
Composition
Lystbg-Btlr/Lystbg-Btlr
Genetic
Background
C57BL/6J-Lystbg-Btlr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lystbg-Btlr mutation (1 available); any Lyst mutation (154 available)
phenotype observed in females
phenotype observed in males
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

growth/size/body
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/21/2023
MGI 6.22
The Jackson Laboratory