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Asah1tm1Esc
Targeted Allele Detail
Nomenclature
Symbol: Asah1tm1Esc
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 detailsConstructs 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory