Phenotypes Associated with This Genotype

Genotype
MGI:2655702

• Allelic Composition: Ap3b1^pe/Ap3b1^pe
• Genetic Background: involves: C3H/He

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

mortality/aging

pregnancy-related premature death ( J:15331 )

• females tend to die during pregnancy and while nursing

neonatal lethality, incomplete penetrance ( J:15331 )

• smaller litter sizes at birth

postnatal lethality ( J:15331 )

• reduced litter sizes at weaning

pigmentation

abnormal coat/hair pigmentation ( J:6739 , J:15331 )

• about 6% of homozygotes have normal color patches (J:6739)

• if more than 5% of coat is normally pigmented then germinal reversion is also seen (J:6739)

diluted coat color ( J:15331 )

• greatest at the base of hairs but affecting the whole hair

• snout, ears, feet and tail particularly lighter than controls

• the characteristic yellowish mask around the eyes is diluted to near-white

white spotting ( J:15331 )

• white "mask" around eyes

• a long, narrow mid ventral white streak is occasionally observed

decreased eye pigmentation ( J:15331 )

• at birth but normal in adults

abnormal melanosome morphology ( J:80751 )

• immature melanosome forms (type II/III) accumulate to a certain degree but fully mature forms are also observed

• increase in membrane blebbing on type IV melanosomes, suggesting abnormal vesicular trafficking

homeostasis/metabolism

decreased platelet serotonin level ( J:7327 )

• much reduced levels of serotonin in platelets and in each large dense granule

abnormal blood coagulation ( J:7327 )

abnormal platelet dense granule physiology ( J:7327 )

• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)

increased bleeding time ( J:7327 )

reproductive system

female infertility ( J:15331 )

♀ • about 1 in 7 females is sterile

vision/eye

decreased eye pigmentation ( J:15331 )

• at birth but normal in adults

hematopoietic system

decreased platelet dense granule number ( J:7327 )

• decreased numbers of dense granules/platelet

• platelet numbers are normal

decreased platelet serotonin level ( J:7327 )

• much reduced levels of serotonin in platelets and in each large dense granule

abnormal platelet dense granule physiology ( J:7327 )

• less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)

behavior/neurological

abnormal maternal nurturing ( J:15331 )

♀ • females that survive pregnancy and lactation make poor mothers

integument

abnormal coat/hair pigmentation ( J:6739 , J:15331 )

• about 6% of homozygotes have normal color patches (J:6739)

• if more than 5% of coat is normally pigmented then germinal reversion is also seen (J:6739)

diluted coat color ( J:15331 )

• greatest at the base of hairs but affecting the whole hair

• snout, ears, feet and tail particularly lighter than controls

• the characteristic yellowish mask around the eyes is diluted to near-white

white spotting ( J:15331 )

• white "mask" around eyes

• a long, narrow mid ventral white streak is occasionally observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 2		DOID:0060540	OMIM:608233	J:52879 , J:80751
platelet storage pool deficiency		DOID:2223	OMIM:185050	J:7327