|
|
| Nomenclature |
|
Symbol:
|
Sbdstm1Jrom
|
|
Name:
|
Shwachman-Bodian-Diamond syndrome homolog (human);
targeted mutation 1, Johanna M Rommens
|
|
MGI ID: |
MGI:3664792 |
|
Synonyms: |
S- |
|
Gene:
|
Sbds
Location:
Chr5:130245731-130255530 bp, - strand
Genetic Position: Chr5,
68.97 cM
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:112167
|
|
Parent Cell Line:
| W4 (ES Cell) |
|
Strain of Origin:
|
129S6/SvEvTac
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (Reporter) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: Exon 1 was disrupted through insertion of an IRES-lacZ and neo cassette. In situ hybridization analysis confirmed the absence of mRNA in E6.5 homozygous embryos. (J:112167)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:112167
Zhang S et al.,
"Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality."
Mol Cell Biol 2006 Sep;26(17):6656-63
|
|
All: |
4 reference(s)
|
|
Analysis Tools
