Phenotypes associated with this allele

• Allele Symbol: Tpcn2⁺
• Allele Name: wild type
• Allele ID: MGI:3049943
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tpcn2^em1Lwbch/Tpcn2^+	C57BL/6J-Tpcn2^em1Lwbch	MGI:7450949

Genotype
MGI:7450949

ht1

• Allelic Composition: Tpcn2^em1Lwbch/Tpcn2⁺
• 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 physiology ( J:332654 )

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

vision/eye

vision/eye phenotype ( J:332654 )

• normal optic choroid morphology

abnormal retina melanocyte morphology ( J:332654 )

• reduced number of melanocytes in RPE

decreased eye pigmentation ( J:332654 )