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Targeted Allele Detail
Symbol: Smn1tm1Msd
Name: survival motor neuron 1; targeted mutation 1, Michael Sendtner
MGI ID: MGI:2183946
Synonyms: SMN-
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:42813
Parent Cell Line:  E14TG2aIV (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Insertion
Mutation detailsA lacZ-neo cassette was inserted into exon 2 by homologous recombination resulting in an in-frame fusion of lacZ to exon 2. Homozygous mutant embryos were identified up to 80 hours post coitum. The expression of the lacZ gene in tissues where Smn is normally expressed was noted. (J:42813)
View phenotypes for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 30 strains available      Cell Lines: 0 lines available
Carrying any Smn1 Mutation:  55 strains or lines available
Original:  J:42813 Schrank B, et al., Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A. 1997 Sep 2;94(18):9920-5
All:  89 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory