Phenotypes associated with this allele

• Allele Symbol: Smpd1^em2Mvw
• Allele Name: endonuclease-mediated mutation 2, Michael Wiles
• Allele ID: MGI:8260697
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smpd1^em2Mvw/Smpd1^em2Mvw	C57BL/6J-Smpd1^em2Mvw/MvwJ	MGI:8260768

Genotype
MGI:8260768

hm1

• Allelic Composition: Smpd1^em2Mvw/Smpd1^em2Mvw
• Genetic Background: C57BL/6J-Smpd1^em2Mvw/MvwJ

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

nervous system

nervous system phenotype ( J:374351 )

N • despite the diminished serum activity from this point mutation there is adequate lysosomal sphingomyelinase activity in the cerebellum to maintain adequate sphingomyelin to prevent the phenotypes of Nieman-Pick Disease