Hemizygous male and homozygous female Harlequin mice are nearly bald with eventual, noticeable ataxia. These mice are characterized by delayed cerebellar cortical atrophy with an apoptotic loss of granule cells, a necrotic loss of Purkinje cells, and retinal degeneration. These mice may be useful in studies of neurodegenerative degeneration including Alzheimer's disease.Read More +
Harlequin mice exhibit paucity of fur resulting in near baldness in hemizygous males and homozygous females. Heterozygous females have a patchy absence of hair that is not always obvious, since the degree of hair loss is notably less than 50%. Homozygotes and hemizygous males weigh less than heterozygous or wild type controls. Ataxia is noticeable by 5 months and progresses as the mice age. Initially the ataxia manifests itself as a side-to-side, unsteady gait with a lateral tremor visible at rest. A delayed cerebellar cortical atrophy has been characterized in these mutants, with an apoptotic loss of granule cells beginning at 4 months of age and a necrotic loss of Purkinje cells occurring subsequently. The granule cells re-enter the cell cycle, but the Purkinje cells do not, supporting the postulate that inappropriate cell cycle re-entry of terminally differentiated neurons can induce apoptosis. Cell loss is greater in the caudal lobules of the cerebellum and is extensive by 9 to 11 months of age. Retinal degeneration is found beginning with ganglion and amacrine cell loss in the ganglion cell layer at 3 months of age, and progresses with cell loss in the inner and outer nuclear layers and reduction of rod and cone ERG responses at 4 months of age. By 10 months, the rod and cone ERG responses are gone, and at 11 months of age there isapparent cell loss in all layers of the retina. No cerebellar or retinal abnormalities were found in heterozygous females. Catalase activity and expression and total glutathione levels are increased in the cerebella of mutant mice, but not in other brain regions, and lipid hydroperoxidases are increased in brain and heart tissue. Primary granule cell cultures, but not cortical cultures, from harlequin mice show increased sensitivity to peroxide. Hemizygous males, homozygous females and hemizygous females are all viable and fertile. (Barber 1971; Falconer and Isaacson 1972; Bronson et al., 1990; Klein et al., 2002.)
|Allele Synonym(s)||harlequin; Aifm1Hq|
|Gene Symbol and Name||Aifm1, apoptosis-inducing factor, mitochondrion-associated 1|
|Gene Synonym(s)||AIFsh2; Pdcd8; CMTX4; COWCK; COXPD6; harlequin; AIF; NADMR; NAMSD; Hq; PDCD8; apoptosis-inducing factor; CMT2D; programmed cell death 8; Pdcd8; Aif; DFNX5; AUNX1; SEMDHL|
|Strain of Origin||CF-1|
|General Note||Although initial reports indicated that ataxia was more severe in males than females, later unpublished reports indicate that there is no significant difference in severity of the ataxia phenotype between hemizygous males and homozygous females (S. Ackerman, personal communication)|
|Molecular Note||The harlequin mutation is an ecotropic proviral insertion at the Pdcd8 gene. This insertion leads to an 80% decrease in transcipt and protein levels, relative to wild-type controls.|
|Allele Name||white bellied agouti Jackson|
|Allele Synonym(s)||white bellied agouti Jackson; Aw-J|
|Gene Symbol and Name||a, nonagouti|
|Gene Synonym(s)||agouti signal protein; As; ASP; As; agouti; agouti suppressor; AGTI; SHEP9; AGSW; AGTIL|
|Strain of Origin||C57BL/6J|
Comments: Hq/Y males need to stay with their mothers an extra week or more because they are too small to wean at 3 weeks.
When using the harlequin mouse strain in a publication, please cite the originating article(s) and include JAX stock #000501 in your Materials and Methods section.
|X linked- Heterozygous females or Wild-type males for Hq, 1 pair minimum|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
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