NOD.Cg-Prkdc^scid Gusb^mps/SndsJ

Stock number: 005053
Product name: NOD/SCID/MPSVII
Research areas: Developmental Biology Research, Immunology, Inflammation and Autoimmunity Research, Internal/Organ Research, Metabolism Research, Mouse/Human Gene Homologs, Neurobiology Research, Research Tools, Sensorineural Research, Virology Research

Description

These mice lack beta-glucoronidase and exhibit skeletal dysplasia along with cognitive, hearing, and visual deficits.

Detailed description

Mice homozygous for the mps allele exhibit skeletal dysplasia as well as cognitive, hearing and visual deficits. Lifespan of the homozygotes is approximately six months. Homozygotes lack the lysomal enzyme, beta-glucoronidase, and, as a result, glycosaminoglycans accumulate in tissues throughout the body. This strain is a model for the human lysomal storage disease, mucopolysaccharidosis type VII. On the NOD-Prkdc^scid background, this strain can be used for xenotransplantation experiments and cell trafficking studies (Hofling et al., 2003).

Development

The donating investigator, Dr. Mark Sands (Snds) at Washington University, St. Louis, generated this strain by backcrossing the Gus^mps allele from B6.C-H2^bm1/ByBir-Gus^mps/J (Stock#000256) to NOD.CB17-Prkdc^scid/J (Stock# 001303) for greater than ten generations. Both strains were obtained from The Jackson Laboratory. The mps mutation arose spontaneously on B6.C-H2^bm1/By in 1976 (Birkenmeier et al., 1989). Dr. Sands donated this strain to The Jackson Laboratory in 2004.

Allele

Symbol: Prkdc^scid
Name: severe combined immunodeficiency
MGI accession ID: MGI:1857113
Generation method: Spontaneous
Synonyms: scid
Marker symbol: Prkdc
Marker name: protein kinase, DNA activated, catalytic polypeptide
Marker synonyms: DNAPDcs; DNAPK; DNA-PK; DNAPKc; DNA-PKC; DNA-PKcs; DNPK1; DOXNPH; dxnph; HYRC; HYRC1; IMD26; p350; S473K; slip; XRCC7
Chromosome: 16
Strain of origin: C.BKa-Igh^b/Icr
Site of expression: T and B lymphocytes.
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

Symbol: Gusb^mps
Name: beta glucuronidase, mucopolysaccharidosis VII
MGI accession ID: MGI:1856041
Generation method: Spontaneous
Synonyms: asd; gus^mps; Gus-b; MPS VII
Marker symbol: Gusb
Marker name: glucuronidase, beta
Marker synonyms: Ac2-223; adipose storage deficiency; asd; BG; g; Gur; Gus; Gus-r; Gus-s; Gus-t; Gus-u; Gut; MPS7
Chromosome: 5
Strain of origin: B6.C-H2-K^bm1/By
Molecular note: A 1-bp deletion creates a frameshift mutation within exon 10, which introduces a premature stop codon at codon 497.