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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N18p Development
The downless Jackson (Edardl-J) mutation arose spontaneously in a cross of two non-inbred silver (si) stocks in 1964. One silver stock was from Lane, of mixed genetic background including brown and nonagouti. The other silver stock was that of R. H. Schaible, which contained ae and Ames waltzer. An outcross was made from a downless Jackson mutant to C57BL/6J and sibling matings were made to F11. Backcrossing to C57BL/6J was again made for 5 generations by the cross-intercross method and again sibling matings for 5 generations. A cross was then made to C3HeB/Fe-a/a and following the first intercross the stock was mated to the B6C3Fe-a/a hybrid, a background on which it has been continued. It was cryopreserved in 1981 by mating homozygous males at N17 to B6C3Fe-a/a F1 females.
Related Strains
Strains carrying Edardl-J allele
000255 GL/Le Edardl-J +/+ Ostm1gl/J View Strains carrying Edardl-J (1 strain)
003602 B6 x STOCK Cln6nclf-Edardl-3J/J
Phenotype
Phenotype Information
Currently there is no phenotype information for this strain.This mouse can be used to support research in many areas including:Edardl-J related
Dermatology Research
Skin and Hair Texture Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Edardl-J | ||
|---|---|---|---|
| Allele Name | downless Jackson | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | STOCK Sisi | ||
| Gene Symbol and Name | Edar, ectodysplasin-A receptor | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | DL; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; FLJ94390; HRM1; RGD1561714; dl; downless; | ||
| General Note |
Homozygous mutant mice lack hair follicles in the tail, sweat glands in the foot pads, and Meibomian glands in the eyelids. They have only one hair type, which is intermediate between the monotrich and awl types. In conjunction with Tg(YACEdar)949Ove, homozygous mutant mice have normal hair follicles, sweat glands, and Meibomian glands; and they display all four hair types seen in normal mice (monotrich, awl, auchene, and zigzag) (J:50575). The phenotype in the downless allelic series is analogous to the human disease, hypohidrotic/anhidrotic ectodermal dysplasia (OMIM 305100, 224900, and 129490). Similar phenotypes have also been described in mice for the Tabby allelic series at the Eda locus. | ||
| Molecular Note | This allele involves a G to A transition mutation at nucleotide 1,135 that causes the amino acid change: glutamate to lysine at position 379 (E379K). [MGI Ref ID J:56496] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Jaskoll T; Zhou YM; Trump G; Melnick M. 2003. Ectodysplasin receptor-mediated signaling is essential for embryonic submandibular salivary gland development. Anat Rec A Discov Mol Cell Evol Biol 271(2):322-31. [PubMed: 12629675] [MGI Ref ID J:105968]
Edardl-J relatedCharles C; Pantalacci S; Tafforeau P; Headon D; Laudet V; Viriot L. 2009. Distinct impacts of Eda and Edar loss of function on the mouse dentition. PLoS ONE 4(4):e4985. [PubMed: 19340299] [MGI Ref ID J:148176]
Headon DJ; Overbeek PA. 1999. Involvement of a novel Tnf receptor homologue in hair follicle induction [see comments] Nat Genet 22(4):370-4. [PubMed: 10431242] [MGI Ref ID J:56496]
Jaskoll T; Zhou YM; Trump G; Melnick M. 2003. Ectodysplasin receptor-mediated signaling is essential for embryonic submandibular salivary gland development. Anat Rec A Discov Mol Cell Evol Biol 271(2):322-31. [PubMed: 12629675] [MGI Ref ID J:105968]
Majumder K; Shawlot W; Schuster G; Harrison W; Elder FF; Overbeek PA. 1998. YAC rescue of downless locus mutations in mice. Mamm Genome 9(11):863-8. [PubMed: 9799834] [MGI Ref ID J:50575]
Pangrazio A; Poliani PL; Megarbane A; Lefranc G; Lanino E; Di Rocco M; Rucci F; Lucchini F; Ravanini M; Facchetti F; Abinun M; Vezzoni P; Villa A; Frattini A. 2006. Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. J Bone Miner Res 21(7):1098-105. [PubMed: 16813530] [MGI Ref ID J:128090]
Schmidt-Ullrich R; Tobin DJ; Lenhard D; Schneider P; Paus R; Scheidereit C. 2006. NF-{kappa}B transmits Eda A1/EdaR signalling to activate Shh and cyclin D1 expression, and controls post-initiation hair placode down growth. Development 133(6):1045-57. [PubMed: 16481354] [MGI Ref ID J:106549]
Tucker AS; Headon DJ; Schneider P; Ferguson BM; Overbeek P; Tschopp J; Sharpe PT. 2000. Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis Development 127(21):4691-700. [PubMed: 11023871] [MGI Ref ID J:64683]
Health & husbandry
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Health & Colony Maintenance Information
Colony Maintenance
Breeding & Husbandry Homozygotes may develop tail lesions. Maloccluson is infrequent on this background.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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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.Ordering and Purchasing Information
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