Phenotypes Associated with This Genotype

Genotype
MGI:5501040

• Allelic Composition: Hps1^ep-7J/Hps1^ep-7J
• Genetic Background: CAST/EiJ-Hps1^ep-7J/GrsrJ

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

Diluted coat color in Hps1^ep-7J/Hps1^ep-7J mice (right) compared with CAST/EiJ control (left)

pigmentation

decreased ear pigmentation ( J:198843 )

diluted coat color ( J:198843 )

• homozygotes on this agouti background have a diluted coat color resembling brown agouti, and have reduced pigmentation in the tail and ears

decreased tail pigmentation ( J:198843 )

limbs/digits/tail

decreased tail pigmentation ( J:198843 )

hearing/vestibular/ear

decreased ear pigmentation ( J:198843 )

craniofacial

decreased ear pigmentation ( J:198843 )

integument

decreased ear pigmentation ( J:198843 )

diluted coat color ( J:198843 )

• homozygotes on this agouti background have a diluted coat color resembling brown agouti, and have reduced pigmentation in the tail and ears

decreased tail pigmentation ( J:198843 )

mortality/aging

perinatal lethality, incomplete penetrance ( J:198843 )

• higher than normal rate of stillborn

postnatal lethality, incomplete penetrance ( J:198843 )

• higher than normal rate of postnatal lethality

growth/size/body

decreased ear pigmentation ( J:198843 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome 1		DOID:0060539	OMIM:203300	J:198843