Asah1^tm1.1Medin
Targeted Allele Detail

Summary

• Symbol: Asah1^tm1.1Medin
• Name: N-acylsphingosine amidohydrolase 1; targeted mutation 1.1, Jeffrey Medin
• MGI ID: MGI:8275162
• Synonyms: Asah1-SMA
• Gene: Asah1 Location: Chr8:41793234-41827810 bp, - strand Genetic Position: Chr8, 23.89 cM
• Alliance: Asah1^tm1.1Medin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:360938
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A floxed neomycin resistance cassette was inserted upstream of the modified exon 13 in which a C-to-G point mutation results in the replacement of proline with arginine at position 361 (p.P361R). This mutation was identified in patients with Farber disease (FD). The neo cassette was removed through subsequent Cre-mediated recombination, which has a profound effect on the phenotype, which is now similar to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) instead of FD. (J:360938)

Disease models

Expression

In Structures Affected by this Mutation:

11 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: 43 strains or lines available

References

• Original: J:360938 Nagree MS, et al., Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency. Commun Biol. 2023 May 25;6(1):560
• All: 1 reference(s)