Research Models

Sorl1*A528T

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Species: Mouse
Genes: Sorl1
Mutations: SORL1 A528T (SNP 13)
Modification: Sorl1: Knock-In
Disease Relevance: Alzheimer's Disease
Strain Name: B6.Cg-Sorl1em1Adiuj/J
Genetic Background: C57BL/6J
Availability: Available from The Jackson Laboratory, JAX Stock# 032759; cryorecovery.

A528T is a common variant of SORL1 that has been shown to associate with a slightly increased risk of AD (~15 percent) in people of European ancestry and to segregate with disease in some families. CRISPR/Cas9 gene editing was used to introduce the A528T missense mutation into the mouse Sorl1 gene.

Heterozygous and homozygous mice are viable and fertile.

Modification Details

CRISPR/Cas9 gene editing was used to introduce the A528T missense mutation and a silent mutation (R529R) into the mouse Sorl1 gene in APOE4/Trem2*R47H mice (JAX 028709). Correctly targeted mice were then backcrossed to C57BL/6J mice (JAX 000664) to remove the human APOE4 sequence and the Trem2 mutation.

Phenotype Characterization

When visualized, these models will distributed over a 18 month timeline demarcated at the following intervals: 1mo, 3mo, 6mo, 9mo, 12mo, 15mo, 18mo+.

Absent

No Data

  • Plaques
  • Tangles
  • Neuronal Loss
  • Gliosis
  • Synaptic Loss
  • Changes in LTP/LTD
  • Cognitive Impairment

Plaques

No data.

Tangles

No data.

Neuronal Loss

No data.

Gliosis

No data.

Synaptic Loss

No data.

Changes in LTP/LTD

No data.

Cognitive Impairment

No data.

Last Updated: 18 Sep 2023

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References

Mutations Citations

  1. SORL1 A528T (SNP 13)

Research Models Citations

  1. Trem2 R47H KI x APOE4 (LOAD1)

External Citations

  1. JAX 028709
  2. JAX 000664
  3. The Jackson Laboratory, JAX Stock# 032759

Further Reading

No Available Further Reading