What question did this study set out to answer?

This study aims to explore the impact of mutations in Aire and Notch4 on alopecia areata in mice.

synapse

⌘+K

synapse

⌘+K

March 16, 2026Open Access

Role of Aire and Notch4 Allelic Mutations in Alopecia Areata in C3H/HeJ Mice

Key Points

This study aims to explore the impact of mutations in Aire and Notch4 on alopecia areata in mice.
Created two congenic mouse strains: Aire null mutant and Notch4 truncated allele.
Examined onset and severity of alopecia areata in C3H/HeJ mice.
Analyzed the relationship between genetic mutations and disease resistance.
Aire mutations decreased the frequency of alopecia areata in the mouse model.
Notch4 mutations did not result in any cases of alopecia areata.
Close linkage to the H2b resistance gene influenced outcomes.

Abstract

Human genetic association studies suggest that AIRE and NOTCH4 are directly associated with severe forms of alopecia areata, possibly distinct subtypes of the disease.To determine if mutations in Aire or Notch4 affected onset or severity of AA in the well-established C3H/HeJ mouse model, two congenic strains C3.129S2(B6)-Aire tm1.1Doi /J, a null mutant, and C3.129S1(B6)-Notch4 tm1Grid /J, a truncated allele expressing only the extracellular domain, were created.The congenic strains resulted in a decrease in the frequency of AA with Aire tm1.1Doi in the C3H/HeJ model.Close linkage to H2 b , a purported resistance gene, probably caused the C3.129S1(B6)-Notch4 tm1Grid /J to not develop any cases of AA.

Bookmark

View Full Paper

Cite This Study

Potter et al. (Sun,) studied this question.

synapsesocial.com/papers/69b79dce8166e15b153ab08b https://doi.org/https://doi.org/10.1016/j.xjidi.2026.100466

Bookmark

View Full Paper