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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Tpcn2em1Lwbch
endonuclease-mediated mutation 1, Wei Li
MGI:7450918
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Tpcn2em1Lwbch/Tpcn2em1Lwbch C57BL/6J-Tpcn2em1Lwbch MGI:7450948
ht2
 		Tpcn2em1Lwbch/Tpcn2+ C57BL/6J-Tpcn2em1Lwbch MGI:7450949


Genotype
MGI:7450948
hm1
Allelic
Composition		 Tpcn2em1Lwbch/Tpcn2em1Lwbch
Genetic
Background		 C57BL/6J-Tpcn2em1Lwbch
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tpcn2em1Lwbch mutation (0 available); any Tpcn2 mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
abnormal retina melanocyte morphology ( J:332654 )
• reduced number of melanocytes in RPE

integument

limbs/digits/tail

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




Genotype
MGI:7450949
ht2
Allelic
Composition		 Tpcn2em1Lwbch/Tpcn2+
Genetic
Background		 C57BL/6J-Tpcn2em1Lwbch
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tpcn2em1Lwbch mutation (0 available); any Tpcn2 mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
abnormal retina melanocyte morphology ( J:332654 )
• reduced number of melanocytes in RPE

integument

limbs/digits/tail

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




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory