Tnf^Bpsm1
Spontaneous Allele Detail

Summary

• Symbol: Tnf^Bpsm1
• Name: tumor necrosis factor; bone phenotype spontaneous mutation 1
• MGI ID: MGI:5795894
• Synonyms: BPSM1^m
• Gene: Tnf Location: Chr17:35418357-35420983 bp, - strand Genetic Position: Chr17, 18.59 cM
• Alliance: Tnf^Bpsm1 page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Spontaneous (Not Applicable)
• Mutation: Viral insertion
• Mutation details: A retrotransposon consisting of a small interspersed element (SINE) spontaneously inserted into the 3'UTR. This insertion provides a new polyadenylation signal and terminates the mRNA prematurely. Western blot analysis confirmed increased protein expression in bone marrow-derived macrophage lysates. (J:226052)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

10 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 Tnf Mutation: 48 strains or lines available

References

• Original: J:226052 Lacey D, et al., Spontaneous retrotransposon insertion into TNF 3'UTR causes heart valve disease and chronic polyarthritis. Proc Natl Acad Sci U S A. 2015 Aug 4;112(31):9698-703
• All: 3 reference(s)