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Targeted Allele Detail
Symbol: Smn1tm1Hung
Name: survival motor neuron 1; targeted mutation 1, Hung Li
MGI ID: MGI:2383990
Synonyms: Smn-, Smndelta 7
Gene: Smn1  Location: Chr13:100261360-100274198 bp, + strand  Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
Germline Transmission:  Earliest citation of germline transmission: J:59313
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExon 7 was replaced with an HPRT cassette via homologous recombination. Homozygous embryos were detected at E3.5 but not after E6.5. (J:59313)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  80 strains or lines available
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.

Original:  J:59313 Hsieh-Li HM, et al., A mouse model for spinal muscular atrophy. Nat Genet. 2000 Jan;24(1):66-70
All:  75 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.17
The Jackson Laboratory