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| Nomenclature |
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Symbol:
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Psaptm2Suz
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Name:
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prosaposin;
targeted mutation 2, Kunihiko Suzuki
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MGI ID: |
MGI:2183897 |
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Synonyms: |
saposin A- |
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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:78223
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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-in) |
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Mutation: | |
Nucleotide substitutions |
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Mutation details: An amino acid substitution was introduced into the saposin A domain of the gene utilizing a Cre/loxP system. Specifically, the mutation was introduced into exon 4 of the gene, changing the fourth cysteine in saposin A to phenylalanine (C106F). This resulted in the loss of one of three conserved disulfide bonds within the protein. Animals carrying this allele produced stable mRNA of normal length. (J:78223)
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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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| References |
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Original: |
J:78223
Matsuda J et al.,
"A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse."
Hum Mol Genet 2001 May 15;10(11):1191-9
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All: |
4 reference(s)
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Analysis Tools
