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| Nomenclature |
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Symbol:
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Psaptm2Ggb
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Name:
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prosaposin;
targeted mutation 2, Gregory A Grabowski
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MGI ID: |
MGI:3802531 |
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Synonyms: |
PsapB- |
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Gene:
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Psap
Location:
Chr10:60277627-60302594 bp, + strand
Genetic Position: Chr10,
30.02 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:137650
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S/SvEv
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A nucleotide substitution resulting in the amino acide substitution of the fourth cysteine to phenylalanine in exon 7 was knocked into the open reading frame along with a floxed neo cassette that was subsequently removed by germ line, cre-mediated recombination. The absence of protein product was confirmed by western blot analysis on liver extracts. (J:137650)
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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 Psap Mutation:
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9 strains or lines available |
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| References |
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Original: |
J:137650
Sun Y et al.,
"Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice."
Hum Mol Genet 2008 Aug 1;17(15):2345-56
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All: |
1 reference(s)
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Analysis Tools
