Smn1^tm1Jme
Targeted Allele Detail

Summary

• Symbol: Smn1^tm1Jme
• Name: survival motor neuron 1; targeted mutation 1, Judith Melki
• MGI ID: MGI:2384151
• Synonyms: SMN^F7
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^tm1Jme page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:61396
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A floxed exon 7 and neomycin resistance cassette were introduced to the gene via homologous recombination. The floxed exon 7 and neo cassette do not appear to interfere with transcript splicing in mutant animals as determined by RT-PCR analysis. (J:61396)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Smn1 Mutation: 87 strains or lines available

References

• 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: 16 reference(s)