Phenotypes Associated with This Genotype

Genotype
MGI:3640189

• Allelic Composition: Rab27a^ash/Rab27a^ash
• Genetic Background: involves: C3H/HeDiSn

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

pigmentation

abnormal Harderian gland pigmentation ( J:4458 )

• melanocytes have fine dendrites and granules are concentrated around the nucleus;

• melanocytes of normal siblings are long and granules widely distributed

abnormal coat/hair pigmentation ( J:4458 )

diluted coat color ( J:4458 )

• mutants on a nonagouti background are similar to homozygous Myo5a and Mlph mutants

• mutants with an agouti background, and therefore greater dilution of yellow pigment, have a grayer adult coat than mice with a nonagouti background

abnormal skin pigmentation ( J:4458 )

• by 3-4 days of age mutant mice have lighter skin pigmentation than normal siblings

abnormal melanocyte morphology ( J:4458 )

abnormal melanosome transport ( J:134370 )

hematopoietic system

abnormal NK cell degranulation ( J:111253 )

• reduced to approximately one tenth normal

decreased platelet dense granule number ( J:63231 )

• 1.3 dense granules per platelet versus 8.4 in C3H controls

decreased platelet serotonin level ( J:63231 )

• less than 10% of normal

impaired natural killer cell mediated cytotoxicity ( J:111253 )

decreased cytotoxic T cell cytolysis ( J:67600 , J:111253 )

• reduced to approximately one tenth normal (J:111253)

homeostasis/metabolism

decreased platelet serotonin level ( J:63231 )

• less than 10% of normal

increased bleeding time ( J:63231 )

• bleed time is greater than 15 minutes, versus the 1.7 minutes of C3H controls

vision/eye

vision/eye phenotype ( J:63231 )

N • normal retinas

immune system

immune system phenotype ( J:111253 )

N • numbers of thymocytes and splenocytes are normal, splenic T cells have a normal CD4/CD8 distribution, splenic T cells proliferate normally in response to CD3/antigen stimulation, the Fas-Fas ligand pathway is intact, cytotoxic T cells can polarize their secretory granules, CTLA4 induction and interferon gamma secretion are normal, and there is normal biogenesis of effector granules in CTLs such that there is a normal level of granzyme A, B, and perforin per CTL

abnormal NK cell degranulation ( J:111253 )

• reduced to approximately one tenth normal

impaired natural killer cell mediated cytotoxicity ( J:111253 )

decreased cytotoxic T cell cytolysis ( J:67600 , J:111253 )

• reduced to approximately one tenth normal (J:111253)

cellular

abnormal vesicle-mediated transport ( J:134370 )

• black, end-stage melanosomes accumulate in the cell center of melanocytes due to an inability to capture them in the dendrites, and there is rapid, bidirectional, microtubule-dependent movement of the melanosomes between the cell center and periphery

abnormal NK cell degranulation ( J:111253 )

• reduced to approximately one tenth normal

integument

integument phenotype ( J:63231 )

N • melanocyte dendritic arbors are normal

abnormal coat/hair pigmentation ( J:4458 )

diluted coat color ( J:4458 )

• mutants on a nonagouti background are similar to homozygous Myo5a and Mlph mutants

• mutants with an agouti background, and therefore greater dilution of yellow pigment, have a grayer adult coat than mice with a nonagouti background

abnormal skin pigmentation ( J:4458 )

• by 3-4 days of age mutant mice have lighter skin pigmentation than normal siblings

endocrine/exocrine glands

abnormal Harderian gland pigmentation ( J:4458 )

• melanocytes have fine dendrites and granules are concentrated around the nucleus;

• melanocytes of normal siblings are long and granules widely distributed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:63231