Smn1^{tm4(SMN2)Mrph}
Targeted Allele Detail

Summary

• Symbol: Smn1^{tm4(SMN2)Mrph}
• Name: survival motor neuron 1; targeted mutation 4, Andrew Murphy
• MGI ID: MGI:3794200
• Synonyms: Smn allele B
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^{tm4(SMN2)Mrph} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:135424
• Parent Cell Line: F1H4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NTac)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: A 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn1 (survival motor neuron 1) gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 (survival of motor neuron 2, centromeric) 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 the hybrid allele. (J:135424)

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:135424 Murphy A (Regeneron Pharmaceuticals Inc), Smn allele B. Personal Communication. 2008
• All: 2 reference(s)