Strain Information | |
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Image | |
BRC No. | RBRC00688 |
Type | Targeted Mutation |
Species | Mus musculus |
Strain name | B6;129S-Psap<tm2Suz>/JumaRbrc |
Former Common name | mouse saposin A mutant mouse |
H-2 Haplotype | |
ES Cell line | |
Background strain | C57BL/6JJcl |
Appearance | brown black |
Strain development | 2001, Junko Matsuda, M.D. and Kunihiko Suzuki, M.D.Neuroscience Center, Departments of neurology and Psychiatry, University of North Carolina, Chapel Hill, NC 27599-7250, U.S.A. |
Strain description | Neurobiology Research, Metabolic Defects, Lysosomal Disease, Demyelinating disease |
Colony maintenance | |
References | 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. Matsuda J, Vanier M T, Saito Y, Tohyama J, Suzuki K, Suzuki K Hum. Mol. Genet., 10, 1191-1199 (2001). 11371512Dramatic phenotypic improvement during pregnancy in a genetic leukodystrophy: estrogen appears to be a critical factor. Matsuda J, Vanier M T, Saito Y, Suzuki K, Suzuki K Hum. Mol. Genet., 10, 2709-2715 (2001). 11726558 |
Health Report | |
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Examination Date / Room / Rack |
Gene | |||||||
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Gene Symbol | Gene Name | Chr. | Allele Symbol | Allele Name | Common Names | Promoter | Diseases Related to This Gene |
Psap | prosaposin | 10 | Psap | targeted mutation 2, Kunihiko Suzuki | more 1 Diseases | ||
loxP | phage P1 loxP | 10 | loxP | more 1 Diseases |
Phenotype | |
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Annotation by Mammalian phenotyhpe ontology | more 32 phenotypes |
Detailed phenotype data |
Ordering Information | |
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Donor DNA | phage P1 loxP site, mouse saposin A genomic DNA |
Research application | Cre/loxP system Metabolism Research Mouse Models for Human Disease Neurobiology Research |
Specific Term and Conditions | No specific terms and conditions. (The DEPOSITOR waives its own rights under any patents, intellectual property, or other proprietary rights with respect to the results to be obtained by use of the BIOLOGICAL RESOURCE.) |
Depositor | Junko Matsuda (Tokushima University) |
Strain Status | Frozen embryos Frozen sperm |
Strain Availability | Recovered litters from cryopreserved embryos (2 to 4 months) Cryopreserved sperm (within 1 month) Cryopreserved embryos (within 1 month) |
Additional Info. | Necessary documents for ordering:
Genotyping protocol -PCR- |
BRC mice in Publications |
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No Data |