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| Nomenclature |
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Symbol:
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Sbdstm2.1Jrom
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Name:
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Shwachman-Bodian-Diamond syndrome homolog (human);
targeted mutation 2.1, Johanna M Rommens
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MGI ID: |
MGI:5446042 |
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Synonyms: |
SbdsR126T |
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Gene:
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Sbds
Location:
Chr5:130245731-130255530 bp, - strand
Genetic Position: Chr5,
68.97 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:189357
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: An 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Sbds Mutation:
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23 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
