Phenotypes associated with this allele

• Allele Symbol: Oca2^p-3Btlr
• Allele Name: pink-eyed dilution 3 Bruce Beutler
• Allele ID: MGI:3783463
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Oca2^p-3Btlr/Oca2^p-3Btlr	C57BL/6J-Oca2^p-3Btlr	MGI:3783464

Genotype
MGI:3783464

hm1

• Allelic Composition: Oca2^p-3Btlr/Oca2^p-3Btlr
• Genetic Background: C57BL/6J-Oca2^p-3Btlr

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

pigmentation

diluted coat color ( J:133623 )

ocular albinism ( J:133623 )

vision/eye

ocular albinism ( J:133623 )

immune system

abnormal NK cell physiology ( J:133623 )

• homozygous mutant NK cells fail to degranulate after in vitro exposure to YAC-1 cells; this is the sole immunologic difference observed between this and Oca2^p-4Btlr mutant mice

• homozygous mutant natural killer (NK) cells degranulate normally upon in vitro stimulation of Ly49H or NKp46 receptors or upon PMA ionomycin treatment

• NK cells from homozygous mutants produce normal amounts of interferon (IFN) alpha following in vitro PMA ionomycin treatment

increased susceptibility to bacterial infection ( J:133623 )

• 75% of homozygous mutant, vs. 100% of wild-type mice, survive infection by Listeria monocytogenes

• despite snowflake mutants' reduced survival of L. monocytogenes infection, they produce normal amounts of cytokines and clear the bacteria from the liver as well as do wild-type mice

integument

diluted coat color ( J:133623 )

hematopoietic system

abnormal NK cell physiology ( J:133623 )

• homozygous mutant NK cells fail to degranulate after in vitro exposure to YAC-1 cells; this is the sole immunologic difference observed between this and Oca2^p-4Btlr mutant mice

• homozygous mutant natural killer (NK) cells degranulate normally upon in vitro stimulation of Ly49H or NKp46 receptors or upon PMA ionomycin treatment

• NK cells from homozygous mutants produce normal amounts of interferon (IFN) alpha following in vitro PMA ionomycin treatment