Fbn1^Tsk
Spontaneous Allele Detail

Summary

• Symbol: Fbn1^Tsk
• Name: fibrillin 1; tight skin
• MGI ID: MGI:1857348
• Synonyms: TSK
• Gene: Fbn1 Location: Chr2:125142514-125348417 bp, - strand Genetic Position: Chr2, 61.38 cM, cytoband F
• Alliance: Fbn1^Tsk page

Fbn1^Tsk/Fbn1⁺ skin exhibits abnormal organization and distribution of microfibrillar arrays

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: B10.D2/(58N)Sn

Mutation description

• Allele Type: Spontaneous
• Mutation: Duplication
• Fbn1^Tsk involves 1 genes/genome features (Fbn1) View all
• Mutation details: This allele harbors a 30 to 40kb genomic tandem duplication within the Fbn1 gene that results in a larger than normal in-frame transcript produced at normal levels. (J:32931, J:45733, J:55886)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:

56 assay results

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Fbn1 Mutation: 171 strains or lines available

Notes

Genbank ID for this allele: AF007248

References

• Original: J:27521 Green MC, et al., Tight skin (Tsk). Mouse News Lett. 1973;48:34
• All: 91 reference(s)