Mice homozygous for the severe combined immune deficiency spontaneous mutation (Prkdcscid, commonly referred to as scid), are characterized by an absence of functional T cells and B cells, lymphopenia, hypogammaglobulinemia, and a normal hematopoietic microenvironment. Most homozygotes have no detectable IgM, IgG1, IgG2a, IgG2b, IgG3, or IgA. Thymus, lymph nodes, and splenic follicles are virtually devoid of lymphocytes. scid mice accept allogeneic and xenogeneic grafts making them an ideal model for cell transfer experiments. The Clcc1m1J spontaneous mutation, which causes increased sensitivity to endoplasmic reticulum stress in the cerebellum, was identified in C3H/HeSnJ (Jia et al., 2015) and has been found homozygous in all C3H/HeSn strains assessed at The Jackson Laboratory, including this congenic, which is homozygous for Clcc1m1J.Read More +
Mice homozygous for the severe combined immune deficiency spontaneous mutation (Prkdcscid, commonly referred to as scid) are characterized by an absence of functional T cells and B cells, lymphopenia, hypogammaglobulinemia, and a normal hematopoietic microenvironment. Normal antigen-presenting cell, myeloid, and NK cell functions are strain dependent. scid mice carry a DNA repair defect and a defect in the rearrangement of genes that code for antigen-specific receptors on lymphocytes. Most homozygotes have no detectable IgM, IgG1, IgG2a, IgG2b, IgG3, or IgA. Thymus, lymph nodes, and splenic follicles are virtually devoid of lymphocytes. scid mice accept allogeneic and xenogeneic grafts making them an ideal model for cell transfer experiments. Some scid mice will spontaneously develop partial immune reactivity. scid mice that have serum Ig levels greater than 1 ug/ml are considered "leaky." scid leakiness is highly strain dependent, increases with age, and is higher in mice housed under non-SPF conditions. In general, scid leakiness is high on the C57BL/6J (Stock No. 001913) and BALB/cBy (Stock No. 001803) genetic backgrounds, low on this C3H/HeJ background, and even lower on the NOD/LtSz background (Stock No. 001303).
View Flow Cytometry Characterization Data for Immunodeficient JAX Strains.
Please note, Stock No. 001131 is maintained on C3H/HeSnJ. In 2015, researchers at The Jackson Laboratory discovered C3H/HeSnJ inbred mice harbor a spontaneous, intracisternal A-particle (IAP) retrotransposon-mediated insertion in exon 2 of Clcc1 locus (Clcc1m1J) resulting in a loss of function mutation. CLCC1 is an endoplasmic reticulum-resident chloride channel. Mice homozygous for Clcc1m1J exhibit ataxia, muscle wasting and cerebellar neurodegeneration later in life (11-12 months). For more information, please review this article: Jia et al. 2015 J Neurosci 35:3001 [PMID:25698737].
Prkdcscid occurred spontaneously in a colony of BALB/c-Ighb (C.B-17) mice maintained at the Institute for Cancer Research in Philadelphia, PA. The mutation was transferred from C.B-17 by backcrossing for 10 generations to C3H/HeSn by Charles Sidman (Roths et al. and personal communication).
|Allele Name||severe combined immunodeficiency|
|Gene Symbol and Name||Prkdc, protein kinase, DNA activated, catalytic polypeptide|
|Site of Expression||T and B lymphocytes.|
|Strain of Origin||C.BKa-Ighb/Icr|
|Molecular Note||A T-to-A transversion point mutation at a position corresponding to codon 4046 (codon 4095 in transcript ENSMUST00000023352.8) created a premature stop codon (p.Y4046*).|
|Allele Name||mutation 1, Jackson|
|Allele Synonym(s)||nm2453; sprawler|
|Gene Symbol and Name||Clcc1, chloride channel CLIC-like 1|
|Strain of Origin||C3H/HeSnJ|
|Molecular Note||The mutation is an intracisternal A-particle (IAP) retrotransposon insertion into a C3H/HeSnJ genomic region. The IAP is inserted into intron 2 of the gene and disrupts the normal splicing of the mRNA transcribed from this gene. Resulting in-frame stop codons from the insertion of IAP sequences resulted in severely reduced protein levels in mutant tissues. The retrotransposition of this IAP is a recent event occurring during, or after, the establishment of the C3H/HeSn substrain.|
When using the C3H scid mouse strain in a publication, please cite the originating article(s) and include JAX stock #001131 in your Materials and Methods section.