B6;129S-Sod1^tm1Leb/J

Stock number: 002972
Product name: Sod1 KO
Research areas: Metabolism Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

Homozygous SOD1^m1BCM knock-out mice are characterized by abnormal retinal and cochlear ganglions, and they have age-related defects in hearing, vasculature, and muscle. These mice may be useful in studying retinal dysfunction, autoimmunity, female reproductive development/function, glaucoma, hearing loss, Alzheimer's Disease, familial amyotrophic lateral sclerosis (ALS), and other age-related disorders.

Detailed description

The SOD1^m1BCM knock-out allele disrupts exons 1 and 2 of the Cu,Zn-superoxide dismutase-1 gene (Sod1). No protein expression from the targeted locus is detected in brain tissues. Heterozygous mice are viable and fertile. While homozygous males reproduce normally, homozygous females are infertile. Homozygous mice have abnormalities of the retinal ganglion, cochlear ganglion, and female reproductive development/function. Homozygous mice also exhibit age-related deafness, accelerated vascular aging and age-related skeletal muscle defects. These mutant mice may be useful in studying retinal dysfunction, autoimmunity, glaucoma, hearing loss, Alzheimer's Disease, familial amyotrophic lateral sclerosis (ALS), and other age-related disorders.

Development

A targeting construct was designed to delete exons 1 and 2 of the Cu,Zn-superoxide dismutase-1 gene (Sod1) and replace those exons with a PGK-HPRT expression cassette. This construct was electroporated into 129S7/SvEvBrd-Hprt^b-m2-derived AB2.1 embryonic stem (ES) cells. The resulting mutant mice (SOD1^m1BCM) were on a mixed C57BL/6;129SvEv genetic background when they arrived at The Jackson Laboratory Repository in 1997. Upon arrival, mutant mice were bred together, and then to B6129SF1/J (Stock No. 101043) for one generation. After this, heterozygous mice were bred together to maintain the colony.

Allele

Symbol: Sod1^tm1Leb
Name: targeted mutation 1, Russell M Lebovitz
MGI accession ID: MGI:1857873
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Sod1
Marker name: superoxide dismutase 1, soluble
Chromosome: 16
Strain of origin: 129S7/SvEvBrd-Hprt^b-m2
Molecular note: Replacement of exons 1 and 2 with a PGK-hprt expression cassette. Protein was not detected in brain of homozygous mutant mice.