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Smn1tm1Jme
Targeted Allele Detail
Nomenclature
Symbol: Smn1tm1Jme
Name: survival motor neuron 1; targeted mutation 1, Judith Melki
MGI ID: MGI:2384151
Synonyms: SMNF7
Gene: Smn1  Location: Chr13:100261360-100274198 bp, + strand  Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
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:  80 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:  12 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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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory