Smn1^{tm6(SMN2)Mrph}
Targeted Allele Detail

Summary

• Symbol: Smn1^{tm6(SMN2)Mrph}
• Name: survival motor neuron 1; targeted mutation 6, Andrew Murphy
• MGI ID: MGI:3846546
• Synonyms: Smn Allele D
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^{tm6(SMN2)Mrph} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:148685
• Parent Cell Line: F1H4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NTac)F1

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: The Smn allele D contains four tandem SMN genes. The first is a hybrid gene in which a 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 gene. The next three are identical full-length, 42 kb copies of the human SMN2 gene. A selection cassette located downstream from the final human SMN2 polyadenylation signal was removed by FLPe expression in ES cells leaving a FRT site at the downstream junction between human and mouse DNA. Because exon 7 is derived from human SMN2, it is skipped in approx. 90% of the processed mRNA derived from each of the gene copies. (J:148685)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Smn1 Mutation: 87 strains or lines available

References

• Original: J:148685 Murphy A (Regeneron Pharmaceuticals Inc), Smn allele D. Personal Communication. 2009
• All: 2 reference(s)