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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- 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 Consomic; Additional information on Consomic Mice. Type Congenic; Mutant Strain; Targeted Mutation; Transgenic; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N10F?pN1
Generation DefinitionsDonating Investigator Eva Eicher, The Jackson Laboratory
Related Strains
Strains carrying Nr0b1tm1.1Lja allele
007007 D2.129(B6)-Nr0b1tm1.1Lja/EiJ View Strains carrying Nr0b1tm1.1Lja (1 strain)
010905 B6.Cg-Tg(Sry)2Ei Srydl1Rlb/ArnoJ 002708 C57BL/6JEi-Tg(Sry)2Ei Chr YAKR/J/EiJ
007006 B6Ei.129-Nr0b1tm1Lja/EiJ
Phenotype
Phenotype Information
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. 46,xy Sex Reversal 2; SRXY2 (NR0B1)- Potential model based on transgenic expression of a human gene that is associated with this disease. Phenotypic similarity to the human disease has not been tested.
Adrenal Hypoplasia, Congenital; AHC (NR0B1)
46,xx Sex Reversal 1; SRXX1 (SRY)
46,xx Sex Reversal 2; SRXX2 (SRY)
46,xy Sex Reversal 1; SRXY1 (SRY)
This mouse can be used to support research in many areas including:Tg(Sry)2Ei related
Developmental Biology Research
Internal/Organ Defects
gonads
Reproductive Biology Research
Developmental Defects Affecting Gonads
Research Tools
Developmental Biology Research
Reproductive Biology Research
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Nr0b1tm1.1Lja | ||
|---|---|---|---|
| Allele Name | targeted mutation 1.1, J Larry Jameson | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | Ahchdelta2; Dax1-; Dax1KO; | ||
| Mutation Made By | Linda Washburn, The Jackson Laboratory | ||
| Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | ||
| ES Cell Line Name | R1 | ||
| ES Cell Line Strain | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | ||
| Gene Symbol and Name | Nr0b1, nuclear receptor subfamily 0, group B, member 1 | ||
| Chromosome | X | ||
| Gene Common Name(s) | AHC; AHCH; AHX; Ahc; Ahch; DAX-1; DAX1; DSS; GTD; HHG; NROB1; SRXY2; adrenal hypoplasia, congenital; adrenal hypoplasia, congenital homolog (human); | ||
| Molecular Note | This allele is a derivative of Nr0b1tm1Lja in which Cre-mediated recombination in vivo under control of a CMV promoter excised exon 2 in the germline. RT-PCR analyses of pituitary, adrenal glands, and gonads did not detect full length transcript in either homozygous female mice or hemizygous male mice. [MGI Ref ID J:51292] | ||
| Allele Symbol | Tg(Sry)2Ei | ||
| Allele Name | transgene insertion 2, Eva M Eicher | ||
| Allele Type | Transgenic (random, expressed) | ||
| Common Name(s) | Tg(Sry-129)2Ei; | ||
| Strain of Origin | C57BL/6JEi-Chr Y | ||
| Expressed Gene | Sry, sex determining region of Chr Y, mouse, laboratory | ||
| Promoter | Sry, sex determining region of Chr Y, mouse, laboratory | ||
| Molecular Note | This transgene consists of an inbred 129 strain derived 14.6 Kb genomic fragment containing the entire Sry open reading frame and no other genes. [MGI Ref ID J:71077] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Nr0b1tm1Lja, tm1.1Lja, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Additional References
Nr0b1tm1.1Lja relatedTg(Sry)2Ei relatedAchermann JC; Meeks JJ; Larry Jameson J. 2001. Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol Cell Endocrinol 185(1-2):17-25. [PubMed: 11738790] [MGI Ref ID J:73634]
Babu PS; Bavers DL; Beuschlein F; Shah S; Jeffs B; Jameson JL; Hammer GD. 2002. Interaction between Dax-1 and steroidogenic factor-1 in vivo: increased adrenal responsiveness to ACTH in the absence of Dax-1. Endocrinology 143(2):665-73. [PubMed: 11796523] [MGI Ref ID J:74975]
Bouma GJ; Albrecht KH; Washburn LL; Recknagel AK; Churchill GA; Eicher EM. 2005. Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells. Development 132(13):3045-54. [PubMed: 15944188] [MGI Ref ID J:98922]
Brennan J; Capel B. 2004. One tissue, two fates: molecular genetic events that underlie testis versus ovary development. Nat Rev Genet 5(7):509-21. [PubMed: 15211353] [MGI Ref ID J:90770]
Jeffs B; Ito M; Yu RN; Martinson FA; Wang ZJ; Doglio LT; Jameson JL. 2001. Sertoli cell-specific rescue of fertility, but not testicular pathology, in Dax1 (Ahch)-deficient male mice. Endocrinology 142(6):2481-8. [PubMed: 11356697] [MGI Ref ID J:70206]
Jeffs B; Meeks JJ; Ito M; Martinson FA; Matzuk MM; Jameson JL; Russell LD. 2001. Blockage of the rete testis and efferent ductules by ectopic sertoli and leydig cells causes infertility in dax1-deficient male mice. Endocrinology 142(10):4486-95. [PubMed: 11564714] [MGI Ref ID J:71710]
Kopp P. 1999. Targeted disruption of the Ahch (Dax-1) gene: knockout of old concepts. Eur J Endocrinol 140(4):291-2. [PubMed: 10097246] [MGI Ref ID J:54550]
Martin LJ; Tremblay JJ. 2010. Nuclear receptors in leydig cell gene expression and function. Biol Reprod 83(1):3-14. [PubMed: 20375256] [MGI Ref ID J:161974]
Meeks JJ; Crawford SE; Russell TA; Morohashi K; Weiss J; Jameson JL. 2003. Dax1 regulates testis cord organization during gonadal differentiation. Development 130(5):1029-36. [PubMed: 12538527] [MGI Ref ID J:81356]
Meeks JJ; Russell TA; Jeffs B; Huhtaniemi I; Weiss J; Jameson JL. 2003. Leydig cell-specific expression of DAX1 improves fertility of the Dax1-deficient mouse. Biol Reprod 69(1):154-60. [PubMed: 12606353] [MGI Ref ID J:84030]
Meeks JJ; Weiss J; Jameson JL. 2003. Dax1 is required for testis determination. Nat Genet 34(1):32-3. [PubMed: 12679814] [MGI Ref ID J:83187]
Park SY; Lee EJ; Emge D; Jahn CL; Jameson JL. 2008. A phenotypic spectrum of sexual development in Dax1 (Nr0b1)-deficient mice: consequence of the C57BL/6J strain on sex determination. Biol Reprod 79(6):1038-45. [PubMed: 18633137] [MGI Ref ID J:145808]
Park SY; Meeks JJ; Raverot G; Pfaff LE; Weiss J; Hammer GD; Jameson JL. 2005. Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development. Development 132(10):2415-23. [PubMed: 15829514] [MGI Ref ID J:98517]
Scheys JO; Heaton JH; Hammer GD. 2011. Evidence of adrenal failure in aging Dax1-deficient mice. Endocrinology 152(9):3430-9. [PubMed: 21733829] [MGI Ref ID J:176895]
Wang ZJ; Jeffs B; Ito M; Achermann JC; Yu RN; Hales DB; Jameson JL. 2001. Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1. Proc Natl Acad Sci U S A 98(14):7988-93. [PubMed: 11427738] [MGI Ref ID J:191932]
Yu RN; Ito M; Saunders TL; Camper SA; Jameson JL. 1998. Role of Ahch in gonadal development and gametogenesis [see comments] Nat Genet 20(4):353-7. [PubMed: 9843206] [MGI Ref ID J:51292]
Albrecht KH; Young M; Washburn LL; Eicher EM. 2003. Sry expression level and protein isoform differences play a role in abnormal testis development in C57BL/6J mice carrying certain Sry alleles. Genetics 164(1):277-88. [PubMed: 12750339] [MGI Ref ID J:127090]
Carruth LL; Reisert I; Arnold AP. 2002. Sex chromosome genes directly affect brain sexual differentiation. Nat Neurosci 5(10):933-4. [PubMed: 12244322] [MGI Ref ID J:130009]
Gatewood JD; Wills A; Shetty S; Xu J; Arnold AP; Burgoyne PS; Rissman EF. 2006. Sex chromosome complement and gonadal sex influence aggressive and parental behaviors in mice. J Neurosci 26(8):2335-42. [PubMed: 16495461] [MGI Ref ID J:105767]
Mahadevaiah SK; Odorisio T; Elliott DJ; Rattigan A; Szot M; Laval SH ; Washburn LL ; McCarrey JR ; Cattanach BM ; Lovell-Badge R ; Burgoyne PS. 1998. Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities. Hum Mol Genet 7(4):715-27. [PubMed: 9499427] [MGI Ref ID J:46791]
Quinn JJ; Hitchcott PK; Umeda EA; Arnold AP; Taylor JR. 2007. Sex chromosome complement regulates habit formation. Nat Neurosci 10(11):1398-400. [PubMed: 17952068] [MGI Ref ID J:128462]
Smith-Bouvier DL; Divekar AA; Sasidhar M; Du S; Tiwari-Woodruff SK; King JK; Arnold AP; Singh RR; Voskuhl RR. 2008. A role for sex chromosome complement in the female bias in autoimmune disease. J Exp Med 205(5):1099-108. [PubMed: 18443225] [MGI Ref ID J:136240]
Szot M; Grigoriev V; Mahadevaiah SK; Ojarikre OA; Toure A; von Glasenapp E; Rattigan A; Turner JM; Elliott DJ; Burgoyne PS. 2003. Does Rbmy have a role in sperm development in mice? Cytogenet Genome Res 103(3-4):330-6. [PubMed: 15051956] [MGI Ref ID J:89312]
Toure A; Szot M; Mahadevaiah SK; Rattigan A; Ojarikre OA; Burgoyne PS. 2004. A new deletion of the mouse Y chromosome long arm associated with the loss of Ssty expression, abnormal sperm development and sterility. Genetics 166(2):901-12. [PubMed: 15020475] [MGI Ref ID J:89616]
Wagner CK; Xu J; Pfau JL; Quadros PS; De Vries GJ; Arnold AP. 2004. Neonatal mice possessing an Sry transgene show a masculinized pattern of progesterone receptor expression in the brain independent of sex chromosome status. Endocrinology 145(3):1046-9. [PubMed: 14645115] [MGI Ref ID J:88702]
Ward MA; Burgoyne PS. 2006. The Effects of Deletions of the Mouse Y Chromosome Long Arm on Sperm Function--Intracytoplasmic Sperm Injection (ICSI)-Based Analysis. Biol Reprod 74(4):652-8. [PubMed: 16354792] [MGI Ref ID J:107012]
Washburn LL; Albrecht KH; Eicher EM. 2001. C57BL/6J-T-Associated Sex Reversal in Mice Is Caused by Reduced Expression of a Mus domesticus Sry Allele. Genetics 158(4):1675-81. [PubMed: 11514455] [MGI Ref ID J:71077]
Yamauchi Y; Riel JM; Stoytcheva Z; Burgoyne PS; Ward MA. 2010. Deficiency in mouse Y chromosome long arm gene complement is associated with sperm DNA damage. Genome Biol 11(6):R66. [PubMed: 20573212] [MGI Ref ID J:179194]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2085.00 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2710.50 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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
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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 Information
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"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.No Warranty
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