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Sbdstm1Aljw
Targeted Allele Detail
Summary
Symbol: Sbdstm1Aljw
Name: SBDS ribosome maturation factor; targeted mutation 1, Alan J Warren
MGI ID: MGI:5007534
Synonyms: Sbdsfl
Gene: Sbds  Location: Chr5:130274573-130284371 bp, - strand  Genetic Position: Chr5, 68.97 cM
Alliance: Sbdstm1Aljw page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:171416
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsA loxP site was inserted upstream of exon 2. A neo cassette with a 3' loxP site was inserted downstream of exon 2. (J:171416)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Sbds Mutation:  31 strains or lines available
References
Original:  J:171416 Finch AJ, et al., Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011 May 1;25(9):917-29
All:  1 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
03/19/2024
MGI 6.23
The Jackson Laboratory