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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:183080
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/SvJ
Allele Type:    Targeted
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. Cre mediated recombination deleted the neo cassette. (J:176267, J:183080)
View phenotypes for all genotypes (concatenated display).
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:  56 strains or lines available
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
MGI 6.02
The Jackson Laboratory