C57BL/6-Gt(ROSA)26Sortm1(CAG-SPAST*C448Y)Baas/J

Cat. No.: CEMM-07250762

Common Name: HSP-SPG4-C448Y
HSP-SPG4-C448Y mice contain cre-inducible human spastin (SPAST) sequence with a C448Y mutation, commonly found in patients with hereditary spastic paraplegia (HSP).
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Status Live Mouse
Frozen Embryo
Age 4 weeks
12 weeks
Customized Age
Sex Male
Female
GENETICS
Allele Symbol
Gt(ROSA)26Sortm1(CAG-SPAST*C448Y)Baas
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Allele Name
targeted mutation 1
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Allele Attributes
Conditional ready (e.g. floxed); Inserted expressed sequence; Humanized sequence
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Gene Symbol
Gt(ROSA)26Sor
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Gene Name
gene trap ROSA 26
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Chromosome
6
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Expressed Genes
SPAST, spastin, human
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MGI Accession ID show more close
Strain of Origin
C57BL/6N
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Molecular Note
A CAG-promoter-driven loxP-flanked STOP cassette followed by a human full-length spastin (M1) containing a G to A point mutation at position 1343 in exon 11 within the AAA domain resulting in a cysteine to tyrosine change at amino acid 448 was inserted between exons 1 and 2 of the Gt(ROSA)26Sor locus. The C448Y mutation is located in the second pore loop of the AAA domain of spastin and destroys the microtubule-severing activity of the protein. This mutation is commonly found in patients with hereditary spastic paraplegia.
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HUSBANDRY
Suggested Controls
C57BL/6NJ
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Breeding Considerations
When maintaining a live colony, homozygous mice may be bred together.
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Breeding Strategy
Heterozygote x Heterozygote
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For Research Use Only.
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