Psaptm2.1Juma
Targeted Allele Detail
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Symbol: |
Psaptm2.1Juma |
Name: |
prosaposin; targeted mutation 2.1, Junko Matsuda |
MGI ID: |
MGI:6444205 |
Synonyms: |
PsapC384S, Sap-C- |
Gene: |
Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
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Alliance: |
Psaptm2.1Juma page
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Germline Transmission: |
Earliest citation of germline transmission:
J:283977
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129S/SvEv
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Allele Type: |
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Targeted (Not Specified) |
Mutation: |
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Nucleotide substitutions
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Mutation details: A T to A nucleotide substitution resulting in an amino acid substitution of the fifth cysteine to serine at position 384 (p.C384S) in exon 11 was knocked into the open reading frame along with a floxed neo cassette that was then removed by cre-mediated recombination. This mutation eliminates one of this protein's three disulfide bridges and results in a selective deficiency in Saposin C.
(J:283977)
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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 Psap Mutation: |
36 strains or lines available
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Original: |
J:283977 Yoneshige A, et al., A mutation in the saposin C domain of the sphingolipid activator protein (Prosaposin) gene causes neurodegenerative disease in mice. J Neurosci Res. 2010 Aug 1;88(10):2118-34 |
All: |
1 reference(s) |
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