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Smn1tm1.1Cdid
Targeted Allele Detail
Nomenclature
Symbol: Smn1tm1.1Cdid
Name: survival motor neuron 1; targeted mutation 1.1, Christine DiDonato
MGI ID: MGI:4836034
Synonyms: Smn2B, Smn2B- no Neo
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:183080
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/SvJ
Mutation
description
Allele Type:    Targeted (Hypomorph, Inserted expressed sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA targeting vector was used to insert a 3 nucleotide mutation (gga-TTT) in exon 7 of Smn1, within an important splice enhancer element, and a floxed Neo cassette (in the opposite orientation to transcription) in intron 7. The mutation changes the exon splice enhancer into an exon splice silencer, thus greatly reducing the inclusion of exon 7 in transcripts, which results in producing Smn2-like transcripts. Cre mediated recombination deleted the neo cassette, which disrupted efficient transcription of Smn1. (J:176267, J:183080)
Phenotypes
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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: 0 strains available      Cell Lines: 0 lines available
Carrying any Smn1 Mutation:  59 strains or lines available
References
Original:  J:183080 Gogliotti RG, et al., Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci. 2012 Mar 14;32(11):3818-29
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
04/26/2016
MGI 6.03
The Jackson Laboratory