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Allele : Sfn<Er> stratifin; repeated epilation

Primary Identifier  MGI:1861121 Allele Type  Radiation induced
Gene  Sfn Inheritance Mode  Semidominant
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
description  Sfn is on Chr 4 close to pupoid fetus (pf), a mutant which SfnEr closely resembles.
molecularNote  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.
  • mutations:
  • Insertion
  • synonyms:
  • Er,
  • Er
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

5 Carried By

Trail: Allele

0 Driven By

28 Publication categories

Trail: Allele