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

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:	10 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)