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Targeted Allele Detail
Symbol: Smn1tm5(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: Smn1tm5(Smn1/SMN2)Mrph page
Germline Transmission:  Earliest citation of germline transmission: J:135425
Parent Cell Line:  F1H4 (ES Cell)
Strain of Origin:  (129S6/SvEvTac x C57BL/6NTac)F1
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Smn1tm5(Smn1/SMN2)Mrph expresses 1 gene
Mutation detailsThe 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)
View phenotypes and curated references for all genotypes (concatenated display).
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:  77 strains or lines available
Original:  J:135425 Murphy A (Regeneron Pharmaceuticals, Inc.), Smn allele C. Personal Communication. 2008;
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.22
The Jackson Laboratory