These mice carry a spontaneous mutation at the Eya1 locus characterized by deafness, circling, and head-bobbing. Morphological abnormalities of the inner ear and dysmorphic or missing kidneys parallel that of the human Branchio-Oto-Renal Syndrome.Read More +
The human Branchio-Oto-Renal Syndrome is generally a dominant disorder with incomplete penetrance and variable expressivity resulting from null mutations in the EYA1 gene. The mouse Eya1bor allele is primarily a recessive hypomorphic mutation. Nevertheless, homozygous mice with this hypomorphic allele offer a good model for Branchio-Oto-Renal Syndrome. The phenotype of Eya1bor/Eya1bor mice parallels that of the human Branchio-Oto-Renal Syndrome and both are thought to result from reduced gene dosage. The Eya1bor/Eya1bor mice are deaf and their behavior is marked by circling and head-bobbing. They lack all but the most basal one-quarter of the cochlea, and the organ of Corti is completely absent. They have foreshortened, narrower semicircular canals and in some the common crus is incomplete. Their kidneys are absent or dysmorphic with greater severity generally on the left side. Fewer homozygotes than expected are born. During mapping crosses using CAST/Ei and C3H/HeJ, it was found that genetic background impacts both the kidney and inner ear phenotypes, and modifier genes in humans also may impact the severity of Branchio-Oto-Renal-Syndrome. (Johnson et al., 1999)
Mice heterozygous for a targeted mutation of Eya1 display a phenotype with hearing loss, renal defects (at low penetrance), and developmental disorders, paralleling the phenotype of mice homozygous for Eya1bor. TUNEL analysis on developing ears of the Eya1 targeted mutant mice revealed an increase in apoptotic cells in the otic vesicle at embryonic day 10.5. (Xu et al., 1999.)
The branchio otorenal syndrome mutation (Bor) arose spontaneously on the C3HeB/FeJ inbred strain at The Jackson Laboratory in 1984, when that inbred was at generation F123. This mutant subline was maintained by sibling inbreeding heterozgyotes with wild type siblings for over a decade then, at F29, backcrossed once to a C3HeB/FeJ male and again maintained by sibling intercrossing. Subsequently this coisogenic mutant subline was backcrossed to a C3HeB/FeJ female at F29N1F5 and maintained by sibling inbreeding. A third backcross to C3HeB/FeJ was done with a male heterozygote at generation F29N1F5N1F3 and the offspring were sibling bred. Between 1998 and 1999 embryos were cryopreserved from C57BL/6J females outcrossed to C3HeB/FeJ heterozygous males at generation F29N3F7 or less. These F1 embryos were subsequently revived and sperm was cryopreserved from heterozygous males.
|Allele Name||wild-type agouti|
|Allele Synonym(s)||A; wild-type agouti|
|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||various|
|General Note||The A allele is usually regarded as a wild-type allele. For example,the C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back.|
|Molecular Note||This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene.|
|Allele Name||branchio otorenal syndrome|
|Allele Synonym(s)||branchio otorenal syndrome; Eya1bor|
|Gene Symbol and Name||Eya1, EYA transcriptional coactivator and phosphatase 1|
|Gene Synonym(s)||BOP; BOR; branchiootorenal dysplasia; BOS1; OFC1; bor; bor|
|Strain of Origin||C3HeB/FeJ|
|Molecular Note||Insertion of an intracisternal A particle (IAP) element in intron 7. The presence of the IAP insertion was associated with reduced expression of the normal mRNA and aberrant splicing.|
|Heterozygous or Wild-type for Eya1<bor>|
A molecular assay to genotype this strain is not available. We will fulfill your order by providing at least two untested males and two untested females (two pairs). The total number, sex, and genotypes will vary, although typically 8 or more mice are provided. Untested animals typically are available to ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing may be required – If recovered animals do not display a phenotype, progeny testing will be required. This testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. 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.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.
|Frozen Mouse Embryo||$2,595.00 per straw or vial|
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