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Targeted Allele Detail
Symbol: Smn1tm1.1Jme
Name: survival motor neuron 1; targeted mutation 1.1, Judith Melki
MGI ID: MGI:2384155
Synonyms: SMNdelta7
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:61396
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsAnimals heterozygous for the targeted mutation Smntm1Jme were mated to a cre recombinase transgenic line to delete the floxed exon 7. Deletion of exon 7 in mRNA from the resulting animals was confirmed by RT-PCR analysis. Heterozygous exon 7 deletion animals were intercrossed to generate homozygous mutants. Homozygous mutant embryos were detected by PCR genotype analysis at E9.5. (J:61396)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Smn1 Mutation:  55 strains or lines available
Original:  J:61396 Frugier T, et al., Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Hum Mol Genet. 2000 Mar 22;9(5):849-58
All:  5 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 6.01
The Jackson Laboratory