Phenotypes Associated with This Genotype

Genotype
MGI:7450948

• Allelic Composition: Tpcn2^em1Lwbch/Tpcn2^em1Lwbch
• Genetic Background: C57BL/6J-Tpcn2^em1Lwbch

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

pigmentation

diluted coat color ( J:332654 )

decreased tail pigmentation ( J:332654 )

abnormal retina melanocyte morphology ( J:332654 )

• reduced number of melanocytes in RPE

decreased eye pigmentation ( J:332654 )

integument

diluted coat color ( J:332654 )

decreased tail pigmentation ( J:332654 )

limbs/digits/tail

decreased tail pigmentation ( J:332654 )

cellular

abnormal lysosome morphology ( J:332654 )

• ~50% larger in MEFs

abnormal lysosome physiology ( J:332654 )

• faster and greater increase in cytoplasmic Ca2+ by release from lysosomes after treatment of MEFs with TPC2 agonist A1N

• more acidified in MEFs

vision/eye

vision/eye phenotype ( J:332654 )

N • normal optic choroid morphology

abnormal retina melanocyte morphology ( J:332654 )

• reduced number of melanocytes in RPE

decreased eye pigmentation ( J:332654 )