B6.129S6-Cc2d1a^tm1Zjc/J

Stock number: 009057
Research areas: Developmental Biology Research

Description

Homozygous Cc2d1a (coiled-coil and C2 domain containing 1A) targeted mutant mice are born at predicted Mendelian ratios but die soon after birth from an inability to breathe. Homozygotes display no physical abnormalities, based on hematoxylin and eosin (H&E) staining. Defects in brain function may explain the phenotype.

Detailed description

Homozygous mutant mice are born at predicted Mendelian ratios but die soon after birth from an inability to breathe. No protein is detected by Western blot of embryonic fibroblast cells. No mRNA is detected by in situ hybridization. Homozygotes display no physical abnormalities, based on hematoxylin and eosin (H&E) staining. Defects in brain function may explain the phenotype.

Development

A targeting vector containing a beta galactosidase gene (lacZ), and a loxP-flanked neomycin resistance cassette was used to replace exons 1-10. The construct was electroporated into 129S6/SvEvTac-derived embryonic stem (ES) cells. The resulting chimeric animals were crossed to C57BL/6 mice, and then backcrossed to the same for 6 generations.

Allele

Symbol: Cc2d1a^tm1Zjc
Name: targeted mutation 1, Zhijian Chen
MGI accession ID: MGI:3829256
Generation method: Targeted
Attributes: Null/Knockout
Synonyms: 1AKO-A; Mit5^-
Marker symbol: Cc2d1a
Marker name: coiled-coil and C2 domain containing 1A
Marker synonyms: Aki-1; FREUD-1; Freud-1/Aki1; Lgd2; MGC:27560; MGC:38983; MRT3; RGD1306108; Tape
Chromosome: 8
Strain of origin: 129S6/SvEvTac
Molecular note: A targeting vector containing a beta galactosidase gene (lacZ), followed by a loxP-flanked neomycin resistance cassette was fused in-frame to exon 1. The tergeting vector deleted exons 1-10 (amino acids 3-349) of the gene. Southern and Western blot failed to detect DNA or protein, respectively, in mutants.