FVB.Cg-Smn1^{tm6(SMN2)Mrph}/J

Stock number: 009381
Research areas: Neurobiology Research

Description

This mutant mouse carries the Smn allele D, which contains four tandem Smn1/SMN2 genes. Further characterization is currently in progress. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy.

Detailed description

This mutant mouse carries the Smn allele D, which contains four tandem Smn1/SMN2 genes. Further characterization is currently in progress. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy.

Importation of this model was supported by the Spinal Muscular Atrophy Foundation.

Development

This mutant mouse carries the Smn allele D, which contains four tandem Smn1/SMN2 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 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 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. The 129S6/SvEvTac X C57BL/6Tac hybrid derived F1H4 ES cell line was used. The mice were then backcrossed to FVB/NJ using a speed congenic protocol.

Allele

Symbol: Smn1^{tm6(SMN2)Mrph}
Name: targeted mutation 6, Andrew Murphy
MGI accession ID: MGI:3846546
Generation method: Targeted
Attributes: Inserted expressed sequence; Humanized sequence
Synonyms: Smn Allele D
Marker symbol: Smn1
Marker name: survival motor neuron 1
Marker synonyms: BCD541; C-BCD541; GEMIN1; SMA; SMA@; SMA1; SMA2; SMA3; SMA4; Smn; SMNC; SMNT; T-BCD541; TDRD16A; TDRD16B
Chromosome: 13
Strain of origin: (129S6/SvEvTac x C57BL/6NTac)F1
Expressed genes: SMN2,survival of motor neuron 2, centromeric,human
Molecular note: 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.