C57BL/6J-Kdelr1^m1Btlr/Mmjax

Stock number: 014642
Product name: daniel gray
Research areas: Dermatology Research, Immunology, Inflammation and Autoimmunity Research

Description

These ENU-induced Kdelr1 mutant mice exhibit hypopigmentation, reduced thymic cellularity and reduced percentages of CD4+ and CD8+ T cells in the blood. This mutant mouse strain may be useful in studies of T cell development and protein trafficking.

Detailed description

Homozygotes: Mice that are homozygous for the mutation are viable, fertile, normal in size. Mice exhibit hypopigmentation, reduced thymic cellularity and reduced percentages of CD4+ and CD8+ T cells in the blood. CD8+ T cells display a high expression of the CD44 marker typically expressed on activated and memory T cells. This mutant mouse strain may be useful in studies of T cell development and protein trafficking.

For additional information, see The Scripps Research Institute Mutagenix website.

Heterozygote: Normal

Development

This missense point mutation was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males. Mutagenized males were outcrossed to C57BL/6J females. The mutation results in a A to G transversion at position 644 in exon 4 of 5 exons. The mutation alters the corresponding amino acid from tyrosine to cysteine at codon 158. Upon arrival, mice were bred to C57BL/6J for at least 1 generation to establish the colony.

Allele

Symbol: Kdelr1^m1Btlr
Name: mutation 1, Bruce Beutler
MGI accession ID: MGI:4843278
Generation method: Chemically induced (ENU)
Attributes: Null/Knockout
Marker symbol: Kdelr1
Marker name: KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
Chromosome: 7
Strain of origin: C57BL/6J
Molecular note: The mutation in the fourth exon corresponds to an A to G transition at nucleotide position 644 of the transcript that is predicted to replace tyrosine with cysteine at amino acid position 158 of the protein (Y158C).