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Smn1tm1Rako
Targeted Allele Detail
Summary
Symbol: Smn1tm1Rako
Name: survival motor neuron 1; targeted mutation 1, Rashmi Kothary
MGI ID: MGI:4398734
Synonyms: Smn2B
Gene: Smn1  Location: Chr13:100261360-100274198 bp, + strand  Genetic Position: Chr13, 52.99 cM, cytoband D1/D2.1
Alliance: Smn1tm1Rako 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 detailsThree nucleotides were inserted into the exon splicing enhancer of exon 7 resulting in the production of a transcript lacking exon 7. (J:154248)
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: 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:  86 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)

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
03/12/2024
MGI 6.23
The Jackson Laboratory