Phenotypes associated with this allele

• Allele Symbol: Lyset^em2Janc
• Allele Name: endonuclease-mediated mutation 2, Jan Carette
• Allele ID: MGI:7384329
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lyset^em2Janc/Lyset^em2Janc	C57BL/6J-Tmem251^em2Janc	MGI:7384333
ht2	Lyset^em1Janc/Lyset^em2Janc	C57BL/6J-Tmem251^em1Janc Tmem251^em2Janc	MGI:7384336

Genotype
MGI:7384333

hm1

• Allelic Composition: Lyset^em2Janc/Lyset^em2Janc
• Genetic Background: C57BL/6J-Tmem251^em2Janc

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

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:330704 )

• serum shows higher enzyme activities of all tested lysosomal enzymes including alpha-mannosidase, beta-hexosaminidase, alpha-L-fucosidase, and beta-galactosidase

• however, mice do not show obvious clinical symptoms observed in humans with TMEM251 mutations

increased beta-galactosidase level ( J:330704 )

cellular

abnormal lysosome morphology ( J:330704 )

• mouse embryonic fibroblasts (MEFs) show morphological changes in lysosomes including accumulation of electron dense material in the cytoplasm indicating storage materials in lysosomes

• MEFs show more numerous and larger lysosomes, however cell area is not altered

immune system

decreased susceptibility to viral infection ( J:330704 )

• MEFs are resistant to infection by a GFP-encoding vesicular stomatitis virus pseudotyped with the Ebola virus glycoprotein (VSV-EBOV-GP)

Genotype
MGI:7384336

ht2

• Allelic Composition: Lyset^em1Janc/Lyset^em2Janc
• Genetic Background: C57BL/6J-Tmem251^em1Janc Tmem251^em2Janc

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:330704 )

• serum shows higher enzyme activities of all tested lysosomal enzymes including alpha-mannosidase, beta-hexosaminidase, alpha-L-fucosidase, and beta-galactosidase

• however, mice do not show obvious clinical symptoms observed in humans with TMEM251 mutations

increased beta-galactosidase level ( J:330704 )

cellular

abnormal lysosome morphology ( J:330704 )

• mouse embryonic fibroblasts (MEFs) show morphological changes in lysosomes including accumulation of electron dense material in the cytoplasm indicating storage materials in lysosomes

• MEFs show more numerous and larger lysosomes, however cell area is not altered

immune system

decreased susceptibility to viral infection ( J:330704 )

• MEFs are resistant to infection by a GFP-encoding vesicular stomatitis virus pseudotyped with the Ebola virus glycoprotein (VSV-EBOV-GP)