Overview

Also Known As:ALDP KO

This strain is currently unavailable due to replenishing of cryopreserved stocks. Interested customers - register interest.

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

Donating Investigator

IMR Colony, The Jackson Laboratory

Genetic overview

Genetic Background	Generation

Abcd1^tm1Kan

Allele Type	Gene Symbol	Gene Name
Targeted (Null/Knockout)	Abcd1	ATP-binding cassette, sub-family D (ALD), member 1

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Research Applications

Neurobiology Research

View All Research Applications

Details

Detailed Description

Mice homozygous for the Abcd1^tm1Kan 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.

Control Suggestions

Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Forss-Petter S; Werner H; Berger J; Lassmann H; Molzer B; Schwab MH; Bernheimer H; Zimmermann F; Nave KA. 1997. Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J Neurosci Res 50(5):829-43PubMed: 9418970 MGI: J:44812

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Genetics

Abcd1^tm1Kan

Allele Symbol: Abcd1^tm1Kan

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
Gene Synonym(s)
Strain of Origin	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺
Chromosome	X
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

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

adrenoleukodystrophy

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Abcd1^tm1Kan related

Neurobiology Research
- Metabolic Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Abcd1^tm1Kan/Abcd1^tm1Kan
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

homeostasis/metabolism phenotype

abnormal lipid homeostasis
- storage of very long-chain fatty acids in the adrenal cortex, CNS, kidney, testis and ovary

reproductive system phenotype

reduced fertility
- when inbreeding hemizygous and homozygous mutant mice

Genotype: Abcd1^tm1Kan/Y
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

homeostasis/metabolism phenotype

abnormal lipid homeostasis
- storage of very long-chain fatty acids in the adrenal cortex, CNS, kidney, testis and ovary

reproductive system phenotype

reduced fertility
- when inbreeding hemizygous and homozygous mutant mice

Genotype: Abcd1^tm1Kan/Y
involves: 129 * BALB/cJ * C57BL/6J * Swiss

homeostasis/metabolism phenotype

increased fatty acid level
- 1-hexacosanoyl-sn-glycero-3-phosophocholine (C26:0-lysoPC) levels are increased 4-fold in the brain, 6-fold in the spinal cord, and 6-fold in the blood
- C26:0-carnitine levels are increased 10-fold in brain, 9-fold in spinal cord, and 6-fold in the blood
- Normal - however, total plasma C26:0 is not increased
- mice exhibit very-long-chain fatty acid accumulation in different lipid classes and acylcarnitines
- total C26:0 levels are increased 8-fold in brain, 4-fold in adrenals, 1.5-fold in testes, 4.5-fold in lung, 2.5-fold in liver, and 3.5-fold in kidney

References

Forss-Petter S; Werner H; Berger J; Lassmann H; Molzer B; Schwab MH; Bernheimer H; Zimmermann F; Nave KA. 1997. Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J Neurosci Res 50(5):829-43PubMed: 9418970 MGI: J:44812

Additional - Abcd1^tm1Kan related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Standard PCR:Abcd1
- Genotyping resources and troubleshooting
Breeding Considerations

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
- Additional Breeding and Husbandry Support
Citation
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.

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Licensing Information

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Also Known As:ALDP KO

Donating Investigator

Genetic overview

Research Applications

Detailed Description

Control Suggestions

Additional Information

Selected References

Abcd1tm1Kan

Allele Symbol: Abcd1tm1Kan

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Abcd1tm1Kan related

Mammalian Phenotype Terms by Genotype

Genotype: Abcd1tm1Kan/Abcd1tm1Kaninvolves: 129S1/Sv * 129X1/SvJ * C57BL/6J

homeostasis/metabolism phenotype

reproductive system phenotype

Genotype: Abcd1tm1Kan/Yinvolves: 129S1/Sv * 129X1/SvJ * C57BL/6J

homeostasis/metabolism phenotype

reproductive system phenotype

Genotype: Abcd1tm1Kan/Yinvolves: 129 * BALB/cJ * C57BL/6J * Swiss

homeostasis/metabolism phenotype

References

Additional - Abcd1tm1Kan related

Genotyping Protocols

Breeding Considerations

Citation

Strain Interest Registration

Contact Information

Interest

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Abcd1^tm1Kan

Allele Symbol: Abcd1^tm1Kan

Genotype: Abcd1^tm1Kan related

Genotype: Abcd1^tm1Kan/Abcd1^tm1Kan
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Genotype: Abcd1^tm1Kan/Y
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Genotype: Abcd1^tm1Kan/Y
involves: 129 * BALB/cJ * C57BL/6J * Swiss

Additional - Abcd1^tm1Kan related