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.
Bruce Beutler, University of Texas Southwestern Medical
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Chemically induced (ENU) (Null/Knockout) | Kdelr1 | KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 |
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
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 Name | mutation 1, Bruce Beutler |
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Allele Type | Chemically induced (ENU) (Null/Knockout) |
Allele Synonym(s) | daniel gray; Kdelr1dgy |
Gene Symbol and Name | Kdelr1, KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J |
Chromosome | 7 |
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). |
When maintaining a live colony, homozygous mice may be bred together.
When using the daniel gray mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #34372 in your Materials and Methods section.
Facility Barrier Level Descriptions
The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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