Asah1^tm1Esc
Targeted Allele Detail

Nomenclature

• Symbol: Asah1^tm1Esc
• Name: N-acylsphingosine amidohydrolase 1; targeted mutation 1, Edward H Schuchman
• MGI ID: MGI:2180367
• Gene: Asah1 Location: Chr8:41340197-41374773 bp, - strand Genetic Position: Chr8, 23.89 cM

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:74647
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Constructs containing a PGK-neo cassette in place of exons 3 through 5 were inserted into ES cells. Southern blot and sequence analysis revealed that a single ES cell contained three constructs inserted into intron 12. This cell was to generate heterozygous mice. (J:74647)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structures

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: 22 strains or lines available

References

• Original: J:74647 Li CM, et al., Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. Genomics. 2002 Feb;79(2):218-24
• All: 2 reference(s)