Smn1^tm1.1Jme
Targeted Allele Detail

Summary

• Symbol: Smn1^tm1.1Jme
• Name: survival motor neuron 1; targeted mutation 1.1, Judith Melki
• MGI ID: MGI:2384155
• Synonyms: SMN^delta7
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^tm1.1Jme 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 (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Animals heterozygous for the targeted mutation Smn^tm1Jme 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• 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: 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: 7 reference(s)