Overview

Also Known As:daniel gray

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.

Donating Investigator

Bruce Beutler, University of Texas Southwestern Medical

Genetic overview

Genetic Background	Generation

Kdelr1^m1Btlr

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU) (Null/Knockout)	Kdelr1	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1

View Genetics

Research Applications

Dermatology Research
Immunology, Inflammation and Autoimmunity Research

View All Research Applications

Details

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.

Control Suggestions

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Kdelr1^m1Btlr

Allele Symbol: Kdelr1^m1Btlr

Allele Name	mutation 1, Bruce Beutler
Allele Type	Chemically induced (ENU) (Null/Knockout)
Allele Synonym(s)	daniel gray; Kdelr1^dgy
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).

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Dermatology Research
- Other
Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency
  - T cell deficiency

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Kdelr1^m1Btlr/Kdelr1^m1Btlr
C57BL/6J-Kdelr1

endocrine/exocrine gland phenotype

thymus hypoplasia

immune system phenotype

increased marginal zone B cell number
- mildly

abnormal T cell differentiation
- intrinsic and moderate impairment from the CD4+CD8+ stage onward

decreased B cell number
- in the spleen

increased susceptibility to viral infection
- all but one mouse (10 of 11) exhibits persistent LMCV infection compared with 4 of 13 wild-type mice

abnormal lymphocyte morphology
- increased frequencies of CD8+CD44^hi and CD4+CD44^hi T cells

absent NK T cells
- almost absent in the spleen

decreased CD8-positive, alpha-beta T cell number
- in the thymus and spleen

increased susceptibility to Riboviria infection
- all but one mouse (10 of 11) exhibits persistent LCMV infection compared with 4 of 13 wild-type mice

decreased CD4-positive, alpha beta T cell number
- in the thymus and spleen
- greater in thymectomized mice

decreased transitional stage T1 B cell number
- in the spleen

thymus hypoplasia

abnormal response to infection
- Normal - however, mice exhibit normal CD8+ T cell priming and antigen-specific CD8+ T cells expression of intracellular cytokines in response to ex vivo LCMV peptide stimulation
- mice infected with the Armstrong strain of lymphochoriomeningitis virus (LCMV) exhibit reduced CD8+ T cell production of inflammatory cytokine (IFNgamma and TNFalpha) compared with wild-type mice

decreased follicular B cell number

decreased lymphocyte cell number
- lymphophenia
- targeted mutation of Bcl2l11 or overexpression of BCL2 does not restore T cell numbers

decreased transitional stage T2 B cell number
- in the spleen

mammalian phenotype

immune system phenotype
- Normal - mice exhibit normal numbers of NK cells

hematopoietic system phenotype

absent NK T cells
- almost absent in the spleen

decreased CD4-positive, alpha beta T cell number
- in the thymus and spleen
- greater in thymectomized mice

decreased CD8-positive, alpha-beta T cell number
- in the thymus and spleen

decreased lymphocyte cell number
- targeted mutation of Bcl2l11 or overexpression of BCL2 does not restore T cell numbers
- lymphophenia

decreased transitional stage T1 B cell number
- in the spleen

abnormal lymphocyte morphology
- increased frequencies of CD8+CD44^hi and CD4+CD44^hi T cells

thymus hypoplasia

decreased follicular B cell number

abnormal T cell differentiation
- intrinsic and moderate impairment from the CD4+CD8+ stage onward

decreased B cell number
- in the spleen

decreased transitional stage T2 B cell number
- in the spleen

increased marginal zone B cell number
- mildly

References

Additional - Kdelr1^m1Btlr related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Pyrosequencing:Kdelr1
- Genotyping resources and troubleshooting
Breeding Considerations

When maintaining a live colony, homozygous mice may be bred together.
- Additional Breeding and Husbandry Support
Citation
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.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

The Jackson Laboratory's Genotype Promise

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.

Terms Of Use

General Terms and Conditions

See MMRRC for Additional Conditions of Distribution

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:daniel gray

Donating Investigator

Genetic overview

Research Applications

Detailed Description

Development

Control Suggestions

Additional Information

Kdelr1m1Btlr

Allele Symbol: Kdelr1m1Btlr

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Mammalian Phenotype Terms by Genotype

Genotype: Kdelr1m1Btlr/Kdelr1m1BtlrC57BL/6J-Kdelr1

endocrine/exocrine gland phenotype

immune system phenotype

mammalian phenotype

hematopoietic system phenotype

References

Additional - Kdelr1m1Btlr related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

Kdelr1^m1Btlr

Allele Symbol: Kdelr1^m1Btlr

Genotype: Kdelr1^m1Btlr/Kdelr1^m1Btlr
C57BL/6J-Kdelr1

Additional - Kdelr1^m1Btlr related