B6.129-Abcd1^tm1Kan/J

Stock number: 003716
Product name: ALDP KO
Research areas: Neurobiology Research

Description

These Abcd1 knock-out mice exhibit no significant neurologic deficits.

Detailed description

This knock-out allele is located on the X-chromosome. Motor development and function are normal in homozygous mutant mice and no early neurologic deficits were evident through the first six months of age. There are no significant differences between mutant mice and wild type mice in the rotarod test and no significant difference in the performance compared to wild type 129/Sv and C57BL/6 background strains.

Homozygous female and hemizygous male mice are viable with a normal lifespan. Most of them breed well, but due to atrophy of ovary/testis, up to 10 percent of homozygous and up to 20 percent of hemizygous mice are not fertile. Despite this, the donating investigator reported no problems breeding their colony. They have never observed the atrophy in heterozygous mice.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

Development

A targeting construct including HSV-tk and neomycin resistance genes was designed to disrupt exon 1 of the ATP-binding cassette, sub-family D (ALD), member 1 locus (Abcd1) on the X chromosome. A 1.1 kb portion of the gene is deleted, effectively removing the translational initiation codon. The construct was inserted into (129X1/SvJ x 129S1/Sv)F1-Kitl⁺ derived R1 embryonic stem (ES) cells. Selected ES cells were injected into C57BL/6J blastocysts. The strain was at generation N4 on a C57BL/6 background as of July 1998. By 2000, this was at generation N5 or more. By 2022, the cryopreserved stocks have been additionally backcrossed approximately 2-3 more generations (equivalent total ~N8).

Allele

Symbol: Abcd1^tm1Kan
Name: targeted mutation 1, Klaus-Armin Nave
MGI accession ID: MGI:1861771
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Abcd1
Marker name: ATP-binding cassette, sub-family D (ALD), member 1
Chromosome: X
Strain of origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Molecular note: A genomic fragment consisting of a large part of exon 1 was deleted and replaced with a neomycin selection cassette. These sequences encode the translation initiation site and the first four transmembrane domains. A mutated transcript is produced from this allele, but lacks the authentic translation start site and contains stop codons in all three reading frames.