Smn1^tm1Hung
Targeted Allele Detail

Summary

• Symbol: Smn1^tm1Hung
• Name: survival motor neuron 1; targeted mutation 1, Hung Li
• MGI ID: MGI:2383990
• Synonyms: Smn-, Smn^{delta 7}
• Gene: Smn1 Location: Chr13:100261360-100274198 bp, + strand Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
• Alliance: Smn1^tm1Hung page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:59313
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 7 was replaced with an HPRT cassette via homologous recombination. Homozygous embryos were detected at E3.5 but not after E6.5. (J:59313)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Smn1 Mutation: 87 strains or lines available

Notes

Homozygous mutant mice died during the peri-implantation stage.

In contrast, homozygous mutant mice carrying Tg(SMN2)1Hung display pathological changes in the spinal cord and skeletal muscles similar to those of patients with proximal spinal muscular atrophy (SMA). Some of these mice do not develop hairy fur, and die before postnatal day 10. Others exhibit poor activity and variable symptoms, and die at approximately 2-4 weeks. A third group of these mice survive to adulthood and are fertile, but have short enlarged tails. The variable severity of the pathological changes in these mice correlates with transgene copy number and the amount of protein that contains the region encoded by exon 7.

References

• Original: J:59313 Hsieh-Li HM, et al., A mouse model for spinal muscular atrophy. Nat Genet. 2000 Jan;24(1):66-70
• All: 116 reference(s)