Phenotypes associated with this allele

• Allele Symbol: Vps33a^bf
• Allele Name: buff
• Allele ID: MGI:1856687
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vps33a^bf/Vps33a^bf	C57BL/6J-Vps33a^bf	MGI:3034088
hm2	Vps33a^bf/Vps33a^bf	C57BL/6J-Vps33a^bf/J	MGI:3817188

Genotype
MGI:3034088

hm1

• Allelic Composition: Vps33a^bf/Vps33a^bf
• Genetic Background: C57BL/6J-Vps33a^bf

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

Vps33a^bf/Vps33a^bf mice exibit coat color hypopigmentation and reduced size and number of melanosomes in the eyes

pigmentation

diluted coat color ( J:13418 )

• nonagouti mice are khaki colored

• eye color does not seem to be overtly affected

abnormal eye pigmentation ( J:81830 )

abnormal choroid pigmentation ( J:88018 )

• melanosomes are reduced in size and number

abnormal retina pigment epithelium morphology ( J:88018 )

• melanosomes are reduced in size and number

abnormal melanosome morphology ( J:81830 )

• melanosomes are reduced in size and number in the eyes

small melanosome ( J:81830 )

• melanosomes are reduced in size in the eyes

hypopigmentation ( J:81830 )

renal/urinary system

abnormal kidney physiology ( J:5799 )

• activity levels of beta-galactosidase, beta-glucuronidase and N-acetyl-beta-hexoseaminidase are higher than in heterozygous controls

homeostasis/metabolism

abnormal blood coagulation ( J:88018 )

• average bleeding time is 6.8 minutes

abnormal platelet physiology ( J:88018 )

decreased platelet aggregation ( J:88018 )

• there is reduced collagen-mediated platelet aggregation

increased bleeding time ( J:7327 )

• bleed time averages 6.8 minutes after tail nick, compared with 3.8 minutes in C57BL/6J controls

vision/eye

abnormal eye pigmentation ( J:81830 )

abnormal choroid pigmentation ( J:88018 )

• melanosomes are reduced in size and number

abnormal retina pigment epithelium morphology ( J:88018 )

• melanosomes are reduced in size and number

hematopoietic system

abnormal platelet physiology ( J:88018 )

decreased platelet aggregation ( J:88018 )

• there is reduced collagen-mediated platelet aggregation

integument

diluted coat color ( J:13418 )

• nonagouti mice are khaki colored

• eye color does not seem to be overtly affected

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome		DOID:3753	OMIM:PS203300	J:88018

Genotype
MGI:3817188

hm2

• Allelic Composition: Vps33a^bf/Vps33a^bf
• Genetic Background: C57BL/6J-Vps33a^bf/J

pigmentation

abnormal iris pigmentation ( J:141035 )

• iris pigment exhibits mild transilluminations increasing peripherally

vision/eye

abnormal iris pigmentation ( J:141035 )

• iris pigment exhibits mild transilluminations increasing peripherally