Summary | Mutation origin | Mutation description | Expression | Phenotypes | Tumor data | Find Mice (IMSR) | Notes | References

Symbol: SfnEr 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: SfnEr page

Abnormal skin morphology of SfnEr/Sfn+ and SfnEr/SfnEr mice Show the 12 phenotype image(s) involving this allele.

Strain of Origin:

Not Specified

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

View phenotypes and curated references for all genotypes (concatenated display).

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

List all tumor models in MMHCdb carrying SfnEr

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:	13 strains or lines available

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