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Sbdstm2.1Jrom
Targeted Allele Detail
Nomenclature
Symbol: Sbdstm2.1Jrom
Name: Shwachman-Bodian-Diamond syndrome homolog (human); targeted mutation 2.1, Johanna M Rommens
MGI ID: MGI:5446042
Synonyms: SbdsR126T
Gene: Sbds  Location: Chr5:130245731-130255530 bp, - strand  Genetic Position: Chr5, 68.97 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:189357
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsAn FRT flanked selection cassette was inserted in intron 2 and a G to C transversion was engineered at position 377. This results in an arginine to threonine change at codon 126. The selection cassette was subsequently removed using flp recombinase. (J:189357)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  23 strains or lines available
References
Original:  J:189357 Tourlakis ME, et al., Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules. Gastroenterology. 2012 Aug;143(2):481-92
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/17/2015
MGI 5.21
The Jackson Laboratory