Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Sbdstm1.1Aljw
Name:	SBDS ribosome maturation factor; targeted mutation 1.1, Alan J Warren
MGI ID:	MGI:5007535
Gene:	Sbds  Location: Chr5:130274573-130284371 bp, - strand  Genetic Position: Chr5, 68.97 cM
Alliance:	Sbdstm1.1Aljw page

Germline Transmission:	Earliest citation of germline transmission: J:171416
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion     Cre-mediated recombination removed exon 2 and the neo cassette. (J:171416)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

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)