C57BL/6J-Card14^em10Lutzy/J

Stock number: 028901
Product name: Card14ins1
Research areas: Immunology, Inflammation and Autoimmunity Research, Research Tools

Description

This CRISPR/Cas9-generated mutant of the Card14 gene carries an insertion of a single nucleotide [C] (indel) in exon 6 that results in a frameshift.

Detailed description

This CRISPR/Cas9-generated point mutant of the Card14 (caspase recruitment domain family, member 14) carries an insertion of a single nucleotide [C] in exon 6, resulting in a frameshift. The Card14 gene encodes a scaffold protein that is a regulator of apoptosis and may have a role in innate immunity. Mutations in this gene, specifically of the single glutamic acid (E138) in the coiled-coil domain, have been associated with psoriasis and pityriasis rubra pilaris. As the mice are characterized, we will modify the strain description and add phenotype data. Homozygous viability/fertility has not been tested (June 2018).

Creation and development of this strain was supported by the Rare Genomics Institute's BeHEARD(Helping Empower and Accelerate Research Discoveries) Initiative. The Jackson Laboratory was a 2016/2017 BeHEARD Technology Sponsor.

Development

Plasmids encoding a single guide RNA designed to insert a single nucleotide [C] in exon 6 of the Card14 gene and the cas9 nuclease were introduced into the cytoplasm C57BL/6J-derived fertilized eggs with well recognized pronuclei. Correctly targeted embryos were transferred to pseudopregnant females. Correctly targeted pups were identified by sequencing and PCR and further bred to C57BL/6J (Stock No. 000664) to develop the colony. Sperm from N2 mice was cryopreserved.

Allele

Symbol: Card14^em10Lutzy
Name: endonuclease-mediated mutation 10, Cathy Lutz
MGI accession ID: MGI:6164015
Generation method: Endonuclease-mediated
Attributes: Not Specified
Marker symbol: Card14
Marker name: caspase recruitment domain family, member 14
Marker synonyms: BIMP2; CARMA2; PRP; PSORS2; PSS1
Chromosome: 11
Strain of origin: C57BL/6J
Molecular note: CRISPR/Cas9 genome editing was used to to insert a single nucleotide (C) into exon 6 causing a frameshift.