Sbds^tm2.1Jrom
Targeted Allele Detail

Summary

• Symbol: Sbds^tm2.1Jrom
• Name: SBDS ribosome maturation factor; targeted mutation 2.1, Johanna M Rommens
• MGI ID: MGI:5446042
• Synonyms: Sbds^R126T
• Gene: Sbds Location: Chr5:130274573-130284371 bp, - strand Genetic Position: Chr5, 68.97 cM
• Alliance: Sbds^tm2.1Jrom page

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 (Humanized sequence, Hypomorph, Modified isoform(s))
• Mutations: Insertion, Nucleotide substitutions
• 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 (R126T). The selection cassette was subsequently removed using flp recombinase. (J:189357)

Disease models

Expression

In Structures Affected by this Mutation:

4 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: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: 2 reference(s)