Asah1^tm1.2Geno
Targeted Allele Detail

Summary

• Symbol: Asah1^tm1.2Geno
• Name: N-acylsphingosine amidohydrolase 1; targeted mutation 1.2, Genoway
• MGI ID: MGI:6401408
• Synonyms: Asah1^tmEx1
• Gene: Asah1 Location: Chr8:41793234-41827810 bp, - strand Genetic Position: Chr8, 23.89 cM
• Alliance: Asah1^tm1.2Geno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:285931
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Altered localization)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 1, encoding the enzymes signal peptide, was flanked by loxP sites. An FRT-flanked neomycin selection cassette was inserted and removed via Flp-mediated recombination. Exon 1 was deleted via cre-mediated recombination in the germline. Removal of the signal peptide disrupts lysosomal targeting of the enzyme. Mice exhibit reduced ceramidase activity in liver, spleen, thymus, and bone marrow. (J:285931)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Asah1 Mutation: 39 strains or lines available

References

• Original: J:285931 Beckmann N, et al., Pathological manifestations of Farber disease in a new mouse model. Biol Chem. 2018 Sep 25;399(10):1183-1202
• All: 2 reference(s)