B6.129X1(Cg)-Slc32a1^tm1.1Bgc/J

Stock number: 012843
Research areas: Developmental Biology Research

Description

This Viatt^lacZ knock out (beta-galactosidase knock in) mutant mouse strain has a homozygous perinatal lethal phenotype, cleft secondary palate, umbilical hernia and may be useful in studies of craniofacial defects.

Detailed description

Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have perinatal lethal phenotype due to respiratory failure. No gene product (mRNA) is detected by RT-PCR analysis of brain tissue from homozygous embryos aged E16.5. Beta-galactosidase staining pattern mimics the endogenous gene expression pattern. Neonate homozygotes exhibit lack of movement, hunched posture, cleft secondary palate, umbilical hernia, and bumps of displaced brown fat deposits in the dorsal cervical area. The Donating Investigator reports that adult heterozygous males on the C57BL/6J background have seizures starting approximately at age 6 months.

Development

A targeting vector containing a loxP site flanked Neo cassette and the lacZ, beta-galactosidase, gene was used to disrupt exon 1, at the start codon. The construct was electroporated into 129X1/SvJ derived GSI-1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts. The mice were crossed to B6.Cg-Tg(Tek-cre)12Flv/J (Stock No. 004128) to remove the floxed neo cassette. The mice were then crossed to C57BL/6J to remove the cre recombinase transgene and then backcrossed to C57BL/6J for 14 generations. Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6J (Stock No. 000664) at least once to establish the colony.

Allele

Symbol: Slc32a1^tm1.1Bgc
Name: targeted mutation 1.1, Brian G Condie
MGI accession ID: MGI:4442415
Generation method: Targeted
Attributes: Reporter; Null/Knockout
Marker symbol: Slc32a1
Marker name: solute carrier family 32 (GABA vesicular transporter), member 1
Chromosome: 2
Strain of origin: 129X1/SvJ
Expressed genes: lacZ,beta-galactosidase,E. coli
Site of expression: Beta-galactosidase staining pattern mimics the endogenous gene expression pattern.
Molecular note: A lacZ and floxed neo cassette were inserted into an NcoI site in exon 1 that includes the start site via homologous recombination. The neo was removed by Cre mediated recombination. RT-PCR confirmed the absence of transcript in homozygous mice.