Mice homozygous for the Abcd1tm1Kan targeted mutation are viable and fertile. 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.
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.
|Allele Name||targeted mutation 1, Klaus-Armin Nave|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||ald -|
|Gene Symbol and Name||Abcd1, ATP-binding cassette, sub-family D (ALD), member 1|
|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.|
|Mutations Made By|| |
Dr. Klaus-Armin Nave, Max-Planck-Institute of Experimental Med
The strain was generated on a 129/Sv background and is currently (7/9/98) at N4 on a C57BL/6 background. Homozygotes are viable and fertile. The gene is located on the X-chromosome. 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 per cent of homozygous and up to 20 per cent of hemizygous mice are not fertile. Despite this, the investigator indicates that we should not have any problems in breeding a colony. They have never observed the atrophy in heterozygous mice. Expected coat color from breeding:Black, White Bellied Agouti
When using the ALDP KO mouse strain in a publication, please cite the originating article(s) and include JAX stock #003716 in your Materials and Methods section.