C57BL/6-Sdccag8^{tm1e(EUCOMM)Wtsi}/SshiJ

Stock number: 026258
Research areas: Developmental Biology Research, Neurobiology Research

Description

Sdccag8^-/- homozygous knockout mice have a perinatal lethal phenotype, exhibiting a number of developmental defects. They may be useful for studying neuronal migration in the cortex.

Detailed description

Sdccag8^-/- knock-out mice possess a splice acceptor cassette and a neo cassette downstream from exon 6 of the serologically defined colon cancer antigen 8 (Sdccag8) gene, disrupting gene expression. SDCCAG8 is a centriole-associated protein involved in cortical neuronal migration. Mutations in this gene have been linked to nephronophthisis, schizophrenia, retinal-renal ciliopathy, and Bardet-Biedl syndrome. Heterozygous mice are viable and fertile, while homozygous mice die soon after birth. Sdccag8^-/- knock-out mice exhibit cleft palate, polydactyly, and an enlarged lateral ventricle. They also display impaired neuronal migration in the developing cortex.

Development

C57BL/6N-A^tm1Brd-derived JM8A3.N1 embryonic stem (ES) cells containing a targeted mutation of the serologically defined colon cancer antigen 8 (Sdccag8) gene were obtained from The European Conditional Mouse Mutagenesis Program (EUCOMM). The Sdccag8 gene has, from 5’ to 3’, a frt site, an En2 splice acceptor cassette containing a β-galactosidase sequence, and loxP-flanked neomycin cassette, containing a frt site, inserted downstream of exon 6. A third loxP-site was inserted downstream of exon 8. The 3' loxP site was lost due recombination events in the homology region between the targeting cassette and 3' loxP site. Correctly targeted ES cells were injected into C57BL/6J blastocysts and resulting chimeric mice from clone EPD0581-2-D04 were bred C57BL/6J mice. Sdccag8^-/- mice were maintained on a C57BL/6J background. Upon arrival, mice were bred to C57BL/6J inbred mice (Stock No. 000664) for at least one generation to establish the colony.

Allele

Symbol: Sdccag8^{tm1e(EUCOMM)Wtsi}
Name: targeted mutation 1e, Wellcome Trust Sanger Institute
MGI accession ID: MGI:4458830
Generation method: Targeted
Attributes: Reporter; Null/Knockout
Synonyms: Sdccag8^LacZ
Marker symbol: Sdccag8
Marker name: serologically defined colon cancer antigen 8
Marker synonyms: 2700048G21Rik; 5730470G24Rik; BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085; NPHP10; NY-CO-8; SLSN7
Chromosome: 1
Strain of origin: C57BL/6N-A^tm1Brd
Expressed genes: lacZ,beta-galactosidase,E. coli; neo,neomycin resistance,bacterial
Molecular note: The L1L2_Bact_P cassette was inserted at position 176844383 of Chromosome 1 upstream of the critical exon(s) (Build GRCm38). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. Insertion of this cassette creates a reporter knockout mouse. Cre expression will remove the neomycin selection cassette. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml