Smn1^{tm5(Smn1/SMN2)Mrph}
Targeted Allele Detail

Summary

• Symbol: Smn1^{tm5(Smn1/SMN2)Mrph}
• Name: survival motor neuron 1; targeted mutation 5, Andrew Murphy
• MGI ID: MGI:3794202
• Synonyms: Smn allele C
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^{tm5(Smn1/SMN2)Mrph} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:135425
• 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
• Smn1^{tm5(Smn1/SMN2)Mrph} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SMN2 (6607)

  Smn1	(MGI:109257)

• Mutation details: The allele encodes two coding sequences: the first is a hybrid gene in which a 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn1 gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 gene and the second is a full 42 kb copy of the human SMN2 gene. A selection cassette located downstream from the 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 approximately 90% of the processed mRNA derived from both genes. 2 independent clones for this allele were generated and clone A2 was used to generated mice. (J:135425)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Smn1 Mutation: 87 strains or lines available

References

• Original: J:135425 Murphy A (Regeneron Pharmaceuticals, Inc.), Smn allele C. Personal Communication. 2008
• All: 14 reference(s)