Abcr- mice may be useful for studying ABCR-mediated photoreceptor degeneration.
A C57BL/6J congenic version of this allele is also available as Stock No. 026800.
Gabriel H. Travis, UCLA School of Medicine
Genetic Background | Generation |
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?+pN1F14
|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Abca4 | ATP-binding cassette, sub-family A (ABC1), member 4 |
Abcr- mice have a neo cassette replacing the promoter and exon 1 of the ATP-binding cassette, sub-family A (ABC1), member 4 (Abca4) gene, abolishing gene expression. ABCR (ABCA4) is a retina-specific protein localized in outer segment disk edges of rod photoreceptors. Mutations in ABCR have been linked to the onset of macular degenerations such as Stargardt macular dystrophy (STGD), recessive retinitis pigmentosa, recessive cone-rod dystrophy, and age-related macular degeneration (AMD). ABCR acts as a transmembrane flippase transporter for phosphatidylethanolamine (N-Ret-PE) which moves N-Ret-PE from inside of the photoreceptor disks out to the cytoplasmic surface. The retinal pigment epithelium (RPE) of the Abcr- mice accumulates of bis-retinoid-lipofuscin material, which is further amplified after supplementation with Vitamin A. The major bis-retinoid-lipofuscin pigment in the RPE of Abcr-/- mice and STGD1 patients is A2E. The knockout mice exhibit slow-photoreceptor degeneration and delayed dark adaptation following a photobleach. Abcr homozygotes null mice are viable and fertile.
Of note, this allele is also available on a congenic C57BL/6J background (Stock No. 026800).
A targeting vector was designed to replace the promoter and exon 1 of the ATP-binding cassette, sub-family A (ABC1), member 4 (Abca4) gene with a neomycin resistance (neo) cassette in reverse orientation to the gene. The construct was electroporated into 129S4/SvJae-derived J1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts and the resulting chimeric males were bred to 129SvEv females. These mice were maintained on a 129SvEv background by the donating lab (see SNP note below). Upon arrival at The Jackson Laboratory, mice were bred to 129S1/SvImJ (Stock No. 002448) for at least one generation to establish the colony.
In 2020, a 135 SNP analysis (with markers covering all 19 chromosomes and the X chromosome) was performed on mice at The Jackson Laboratory Repository. This showed all markers as 129S allele-type except one marker on Chromosome 6 and one marker on Chromosome 16, which were both segregating with BALB/c from an unknown source. These mice were determined to be 129S congenic (~98.5% 129S).
Allele Name | targeted mutation 1, Gabriel H Travis |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | abcr- |
Gene Symbol and Name | Abca4, ATP-binding cassette, sub-family A (ABC1), member 4 |
Gene Synonym(s) | |
Strain of Origin | 129S4/SvJae |
Chromosome | 3 |
Molecular Note | Replacement of a 4 kb genomic fragment containing the promoter and first exon with a neomycin cassette. Immunoblot analysis of retinal homogenates failed to detect any protein in samples derived from homozygous mice. |
When maintaining a live colony, homozygous mice may be bred together.
When using the abcr- mouse strain in a publication, please cite the originating article(s) and include JAX stock #023725 in your Materials and Methods section.
Service/Product | Description | Price |
---|---|---|
Heterozygous for Abca4<tm1Ght> |
Frozen Mouse Embryo | 129S-Abca4<tm1Ght>/J | $2595.00 |
Frozen Mouse Embryo | 129S-Abca4<tm1Ght>/J | $2595.00 |
Frozen Mouse Embryo | 129S-Abca4<tm1Ght>/J | $3373.50 |
Frozen Mouse Embryo | 129S-Abca4<tm1Ght>/J | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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