These Scid/blAJ mice are a C57BL/6-congenic line that is dysferlin-deficient and also lack B and T lymphocytes. Their attenuated muscle-damaging immune responses result in a dysferlinopathy that is less severe compared to A/J mice naturally carrying the dysferlin mutation. Scid/blAJ mice may be useful for studying limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy, transplantation studies, complement system / membrane attack pathway / membrane attack complex, and how distinct subpopulations of macrophages can promote muscle injury or repair in muscular dystrophy.
IMR Colony, The Jackson Laboratory
These Scid/blAJ mice are a C57BL/6-congenic line harboring both the progressive muscular dystrophy allele of dysferlin (Dysfprmd) and the severe combined immunodeficiency mutation (Prkdcscid). Homozygous Scid/blAJ mice (homozygous for both mutations) are viable and fertile. Homozygous Scid/blAJ mice are dysferlin-deficient (exhibit no dysferlin RNA or protein expression in muscle fiber membranes) and also immunodeficient due to a lack of mature B and T lymphocytes. As such, the attenuated muscle-damaging immune responses in Scid/blAJ mice result in improved muscle regeneration and less severe dysferlinopathy compared to A/J inbred mice naturally carrying the dysferlin mutation (Stock No. 000646).
Dysferlin mutations cause muscular dystrophy (dysferlinopathy) characterized by adult onset muscle weakness, high serum creatine kinase levels, attenuation of muscle regeneration and a prominent inflammatory infiltrate. The following describes homozygous Scid/blAJ mice compared to C57BL/6-congenic mice homozygous for the dysferlin mutation (bl/AJ; Stock No. 012767):
At 5 months of age, both Scid/blAJ and bl/AJ mice show dystrophic changes, including central nuclei, fiber splitting, variation on fiber size, presence of regenerating fibers, and increased interstitial fibrous tissue. 5-month-old Scid/blAJ mice are at the paucisymptomatic stage; exhibiting the first dystrophic changes, but before the presence of abundant fibrous tissue or fatty infiltration of muscles. By 9 months of age, compared to blAJ mice, Scid/blAJ mice exhibit significantly reduced necrotic fibers, phagocytosis and variation of fiber size, with an increase of regenerating fibers in all muscles.
The following describes homozygous Scid/blAJ mice compared to A/J inbred mice naturally carrying the dysferlin mutation (Stock No. 000646):
A/J mice develop a late-onset and slowly progressive muscular disease. The first dystrophic features appear at ~4-5 months, affecting both lumbar and proximal muscles of the lower limbs. By 6 months of age, Scid/blAJ mice exhibit elevated serum creatine kinase and sarcolemmal muscle membrane damage, but to a lesser degree than the elevated levels seen in A/J mice. Scid/blAJ mice lack the sarcolemmal and vesicular dysferlin localization seen for A/J mice. Compared to A/J, Scid/blAJ have diminished pro-inflammatory M1-activated macrophages. By 9 months of age, the dystrophic muscles in A/J mice have variation in fiber size, moderate fatty infiltration and sparse necrotic fibers surrounded by macrophages infiltrates. In comparison, by 9 months of age, Scid/blAJ mice exhibit significantly reduced necrotic fibers, phagocytosis and variation of fiber size, with an increase of regenerating fibers in all muscles.
These Scid/blAJ mice were assembled at The Jackson Laboratory Repository in 2012 by breeding Bl/AJ mice (Stock No. 012767) with B6.scid mice (Stock No. 001913). The development of the two donor strains are listed below.
The Bl/AJ mice are a C57BL/6-congenic strain bred to retain the A/J inbred mouse-derived progressive muscular dystrophy allele of dysferlin (Dysfprmd); a spontaneous mutation caused by a 5-6 Kbp ETn retrotransposon inserted in intron 4). See The Jackson Laboratory Stock No. 012767 for more information.
The B6.scid mice are a C57BL/6-congenic strain harboring the severe combined immunodeficiency mutation (Prkdcscid). The Prkdcscid mutation occurred spontaneously in a colony of BALB/c-Ighb (C.B-17) mice while maintained at the Institute for Cancer Research in Philadelphia. See The Jackson Laboratory Stock No. 001913 for more information.
|Allele Name||progressive muscular dystrophy|
|Gene Symbol and Name||Dysf, dysferlin|
|Gene Synonym(s)||2310004N10Rik; 2310004N10Rik; AI604795; D6Pas3; DNA segment, Chr 6, Pasteur Institute 3; FER1L1; LGMD2B; MMD1; RIKEN cDNA 2310004N10 gene; expressed sequence AI604795|
|Strain of Origin||A/J|
|Molecular Note||A retrotransposon insertion occurred within intron 4, causing aberrant splicing of the gene. Protein was abolished as shown by Northern blot and immunoblot analysis. The insertion was 6000bp in size. This allele was found only in A/J mice, not in A/WySnJ, A/HeJ, C57BL/6J, SJL/J, SWR/J or 129/SvJ mice.|
|Mutations Made By|| |
Douglas Albrecht, Jain Foundation Inc
|Allele Name||severe combined immunodeficiency|
|Allele Synonym(s)||SCID; scid|
|Gene Symbol and Name||Prkdc, protein kinase, DNA activated, catalytic polypeptide|
|Gene Synonym(s)||AI326420; AU019811; DNA-PK; DNA-PKcs; DNAPDcs; DNAPK; DNPK1; DOXNPH; HYRC; HYRC1; IMD26; XRCC7; doxorubicin nephropathy; dxnph; dxnph; expressed sequence AI326420; expressed sequence AU019811; p350; scid; severe combined immunodeficiency; slip|
|Site of Expression||T and B lymphocytes.|
|Strain of Origin||C.B-17|
|Molecular Note||A T-to-A transversion point mutation at a position corresponding to codon 4095 created a premature stop codon.|
When maintaining the live Scid/blAJ colony, mice homozygous for both the Dysfprmd and Prkdcscid mutations may be bred together. Such mice are immunodeficient and are expected to develop a mild muscular phenotype.
When using the Scid/blAJ mouse strain in a publication, please cite the originating article(s) and include JAX stock #017917 in your Materials and Methods section.
|Heterozygous for Dysf<prmd>, Heterozygous for Prkdc<scid>|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
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