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| Nomenclature |
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Symbol:
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Asah1tm1Esc
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Name:
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N-acylsphingosine amidohydrolase 1;
targeted mutation 1, Edward H Schuchman
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MGI ID: |
MGI:2180367 |
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Gene:
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Asah1
Location:
Chr8:41340197-41374773 bp, - strand
Genetic Position: Chr8,
23.89 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:74647
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Asah1 Mutation:
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10 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
