Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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
Alliance:	Smn1tm1Jme page

Germline Transmission:	Earliest citation of germline transmission: J:61396
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Conditional ready, No functional change) Mutation:    Insertion   Mutation details: A 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

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:	86 strains or lines available

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:	13 reference(s)