Asah1^tm1Medin
Targeted Allele Detail

Summary

• Symbol: Asah1^tm1Medin
• Name: N-acylsphingosine amidohydrolase 1; targeted mutation 1, Jeffrey Medin
• MGI ID: MGI:5792731
• Synonyms: Asah1^P361R
• Gene: Asah1 Location: Chr8:41793234-41827810 bp, - strand Genetic Position: Chr8, 23.89 cM
• Alliance: Asah1^tm1Medin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:232306
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• 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 (P361R). This mutation was identified in patients with Farber disease. (J:232306)

Disease models

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Asah1 Mutation: 39 strains or lines available

References

• Original: J:232306 Alayoubi AM, et al., Systemic ceramide accumulation leads to severe and varied pathological consequences. EMBO Mol Med. 2013 Jun;5(6):827-42
• All: 7 reference(s)