Smtn^tm1Gve
Targeted Allele Detail

Summary

• Symbol: Smtn^tm1Gve
• Name: smoothelin; targeted mutation 1, Guillaume van Eys
• MGI ID: MGI:3613292
• Synonyms: Smtn-A/B^-
• Gene: Smtn Location: Chr11:3467522-3489337 bp, - strand Genetic Position: Chr11, 2.47 cM, cytoband A2-A3
• Alliance: Smtn^tm1Gve page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:104648
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Part of exon 18 and exons 19-20 were replaced with a neomycin resistance gene under the control of a thymidine kinase promoter in reverse orientation. RT-PCR detected a shorter transcript in mutants with exons 16 or 17 spliced to exon 21. Immunohistochemical stainings failed to detect protein in jejunum. (J:104648)

Expression

In Structures Affected by this Mutation:

12 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 Smtn Mutation: 45 strains or lines available

Notes

ES cell line = L129/Sv

Phenotypic Similarity to Human Syndrome: chronic intestinal pseudo-obstruction (J:104648)

References

• Original: J:104648 Niessen P, et al., Smoothelin-a is essential for functional intestinal smooth muscle contractility in mice. Gastroenterology. 2005 Nov;129(5):1592-601
• All: 2 reference(s)