C57BL/KaLawRij-Sharpin^cpdm/RijSunJ

Stock number: 007599
Research areas: Dermatology Research, Immunology, Inflammation and Autoimmunity Research

Description

Mice homozygous for this recessive Sharpin^cpdm mutation develop a severe, chronic, inflammatory skin disease beginning at 3-5 weeks of age. This mutant mouse strain may be useful in studies related to eosinophilic dermatitis, inflammation and secondary lymphoid organ development.

Detailed description

Sharpin (SHANK-associated RH domain interacting protein) encodes a key regulator of NFKB and integrin signaling.  Mice homozygous for this recessive Sharpin^cpdm (chronic proliferative dermatitis) point mutation develop a severe, chronic, inflammatory skin disease beginning at 3-5 weeks of age. Mice appear runted and life span is shortened. Severe pruritus often causes self-inflicted wounds necessitating euthanasia usually before the age of 30 weeks. In addition to dermatitis, homozygotes exhibit multi-organ inflammation with eosinophilia, defective TH1 cytokine production, splenomegaly, absent Peyer's patches (adult), diminished serum immunoglobulins, and an absence of B cell follicles, follicular dendritic cells, and germinal centers in secondary lymph organs. This mutant mouse strain may be useful in studies related to eosinophilic dermatitis, inflammation, and secondary lymphoid organ development.

Heterozygotes are viable and fertile, and exhibit no overt phenotype. Due to the severity of the homozygous phenotype, we are only able to ship heterozygotes.

Development

This cpdm spontaneous mutation arose in a colony of C57BL/KaLawRij held at TNO-Institute in the Netherlands. Mice from the cpdm colony were sent to Dr. John Sundberg at The Jackson Laboratory in 1993, and were maintained by sibling matings in a private research colony until they were donated to The Jackson Laboratory Repository in 2007.

The cpdm (chronic proliferative dermatitis) mutation incorporates a single nucleotide deletion at the 3’ end of exon 1 in the mouse Sharpin (SHANK-associated RH domain interacting protein) gene that is predicted to cause a premature stop codon.

Allele

Symbol: Sharpin^cpdm
Name: chronic proliferative dermatitis
MGI accession ID: MGI:1856699
Generation method: Spontaneous
Marker symbol: Sharpin
Marker name: SHANK-associated RH domain interacting protein
Chromosome: 15
Strain of origin: C57BL/Ka
Molecular note: A single nucleotide deletion (C forward strand, G reverse gene strand; from sequence CCCC) in glycine codon 65 or alanine codon 66 in the 3' end of exon 1 creates a shift in the open reading frame at Ala66 (changing it to arginine) predicted to cause a premature stop codon 4 codons downstream.