Phenotypes Associated with This Genotype

Genotype
MGI:5466156

• Allelic Composition: Kxd1^tm1Wli/Kxd1^tm1Wli
• Genetic Background: involves: 129 * C57BL/6J

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

pigmentation

abnormal choroid melanin granule morphology ( J:192646 )

• slightly increased numbers of small and rounded melanosomes in the choroid

abnormal retina melanin granule morphology ( J:192646 )

• slightly increased numbers of small and rounded melanosomes in the retinal pigment epithelium

• reduced eumelanin content compared with wild-type mice

hematopoietic system

decreased platelet dense granule number ( J:192646 )

• reduced without affecting the total platelet count

vision/eye

abnormal choroid melanin granule morphology ( J:192646 )

• slightly increased numbers of small and rounded melanosomes in the choroid

abnormal retina melanin granule morphology ( J:192646 )

• slightly increased numbers of small and rounded melanosomes in the retinal pigment epithelium

• reduced eumelanin content compared with wild-type mice

cellular

cellular phenotype ( J:238623 )

N • no apparent changes of intracellular Notch1 (N^TM) levels are observed in isolated mouse embryonic fibroblasts (MEFs) relative to wild-type MEFs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Hermansky-Pudlak syndrome		DOID:3753	OMIM:PS203300	J:192646