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Targeted Allele Detail
Symbol: Smn1tm1.1Dscd
Name: survival motor neuron 1; targeted mutation 1.1, Dawn S Chandler
MGI ID: MGI:4836979
Synonyms: Smn C>T
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:164889
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsExon 7 was replaced with one in which a C to T transition, mimicking a muatation found in roximal spinal muscular atrophy (SMA) patients, results in exclusion of exon 7 from the premRNA. An FRT flanked neo cassette inserted upstream of exon 7 and removed by flp mediated recombination. Reduced protein expression was confirmed by western blot analysis on kidney, liver, brain, spinal cord, and quadricep extracts. (J:164889)
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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:  60 strains or lines available
Original:  J:164889 Gladman JT, et al., A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. Hum Mol Genet. 2010 Nov 1;19(21):4239-52
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.07
The Jackson Laboratory