This strain is homozygous for the retinal degeneration allele Pde6brd1.
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. 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.
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 backcrossed twice to C3HeB/FeJ with intervening sibling inbreeding. Between 1997 and 1998 embryos were cryopreserved from C3HeB/FeJ females bred to heterozygous males at generation F29N2.
|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.|
When using the branchio otorenal syndrome mouse strain in a publication, please cite the originating article(s) and include JAX stock #002588 in your Materials and Methods section.
|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.
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