All Phenotypes Lyset<em2Janc> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Lyset^em2Janc
endonuclease-mediated mutation 2, Jan Carette
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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lyset^em2Janc mutation (0 available); any Lyset mutation (5 available)

♀	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)

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