Sfn^Er
Radiation induced Allele Detail

Summary

• Symbol: Sfn^Er
• Name: stratifin; repeated epilation
• MGI ID: MGI:1861121
• Synonyms: Er
• Gene: Sfn Location: Chr4:133327867-133329163 bp, - strand Genetic Position: Chr4, 66.25 cM, cytoband D3
• Alliance: Sfn^Er page

Abnormal skin morphology of Sfn^Er/Sfn⁺ and Sfn^Er/Sfn^Er mice

Show the 12 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Radiation induced
• Mutation: Insertion
• Mutation details: A single T insertion between base pairs 623 and 624 (cDNA from transcript ENSMUST00000057311.4) causes a frameshift mutation at amino acid residue 207 truncating the C-terminus of the protein (ADLHTLSEDSY TO ADLHTLQ[STOP]). This eliminates residues required for ligand interaction. Production of truncated protein was demonstrated immunologically. The hair-loss phenotype could be rescued using a Sfn containing transgene. (J:101891)
• Inheritance: Semidominant

Expression

In Mice Carrying this Mutation:	35 assay results
In Structures Affected by this Mutation:	45 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Sfn^Er

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Sfn Mutation: 15 strains or lines available

Notes

Sfn is on Chr 4 close to pupoid fetus (pf), a mutant which Sfn^Er closely resembles.

References

• Original: J:29020 Hunsicker, Repeated epilation, Er. Mouse News Lett. 1960;23:58-9
• All: 27 reference(s)