Asah1tm1.2Geno
Targeted Allele Detail
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Symbol: |
Asah1tm1.2Geno |
Name: |
N-acylsphingosine amidohydrolase 1; targeted mutation 1.2, Genoway |
MGI ID: |
MGI:6401408 |
Synonyms: |
Asah1tmEx1 |
Gene: |
Asah1 Location: Chr8:41793234-41827810 bp, - strand Genetic Position: Chr8, 23.89 cM
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Alliance: |
Asah1tm1.2Geno page
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Germline Transmission: |
Earliest citation of germline transmission:
J:285931
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
C57BL/6
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Allele Type: |
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Targeted (Not Applicable) |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: Exon 1, encoding the enzymes signal peptide, was flanked by loxP sites. An FRT-flanked neomycin selection cassette was inserted and removed via Flp-mediated recombination. Exon 1 was deleted via cre-mediated recombination in the germline. Removal of the signal peptide disrupts lysosomal targeting of the enzyme. Mice exhibit reduced ceramidase activity in liver, spleen, thymus, and bone marrow.
(J:285931)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Asah1 Mutation: |
37 strains or lines available
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Original: |
J:285931 Beckmann N, et al., Pathological manifestations of Farber disease in a new mouse model. Biol Chem. 2018 Sep 25;399(10):1183-1202 |
All: |
2 reference(s) |
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