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Smn1tm5(Smn1/SMN2)Mrph
Targeted Allele Detail
Nomenclature
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: Chr13:100124852-100137690 bp, + strand  Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
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
 
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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  57 strains or lines available
References
Original:  J:135425 Murphy A (Regeneron Pharmaceuticals, Inc.), Smn allele C. Personal Communication. 2008;
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/17/2015
MGI 5.21
The Jackson Laboratory