Smn1^tm1Rako
Targeted Allele Detail

Summary

• Symbol: Smn1^tm1Rako
• Name: survival motor neuron 1; targeted mutation 1, Rashmi Kothary
• MGI ID: MGI:4398734
• Synonyms: Smn^2B
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^tm1Rako page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:154248
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Modified regulatory region)
• Mutation: Insertion
• Mutation details: Three nucleotides were inserted into the exon splicing enhancer of exon 7 resulting in the production of a transcript lacking exon 7. (J:154248)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:154248 Bowerman M, et al., SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. Mol Cell Neurosci. 2009 Sep;42(1):66-74
• All: 18 reference(s)