Smn1^tm1Msd
Targeted Allele Detail

Summary

• Symbol: Smn1^tm1Msd
• Name: survival motor neuron 1; targeted mutation 1, Michael Sendtner
• MGI ID: MGI:2183946
• Synonyms: SMN^-
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^tm1Msd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:42813
• Parent Cell Line: E14TG2aIV (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Insertion
• Mutation details: A 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)

Disease models

Expression

In Mice Carrying this Mutation:	10 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 37 strains available Cell Lines: 0 lines available
• Carrying any Smn1 Mutation: 87 strains or lines available

References

• 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: 244 reference(s)