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Strain Name:

D2.129P2(B6)-Nr5a1tm1Klp/EiJ

Stock Number:

003219

Availability:

Repository-Cryopreserved


General Terms and Conditions

Former Name      D2.129P2(B6)-Nr5a1tm1Klp    (Changed: 05-APR-07 )
      Ftzf1    (Changed: 15-DEC-04 )
Genes & Alleles   Nr5a1;   Nr5a1tm1Klp;


Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Targeted Mutation
Specieslaboratory mouse
Background Strain DBA/2J
Donor Strain B6;129P-Ftzf1tm1Klp (129P2 derived E14TG2a ES cell line)
Donating Investigator Keith Parker,   Univ Texas Southwestern Medical Center
GenerationN12+

Appearance
dilute brown
Related Genotype: a/a Tyrp1b/Tyrp1b Myo5ad/Myo5ad

Strain Description
Mice homozygous for the Nr5a1tm1Klp (formerly Ftzf1tm1Klp) targeted mutation exhibit adrenal and gonadal agenesis. There is also an absence of the ventromedial hypothalamic nucleus leading to impaired expression of gonadotrope specific markers.

Mammalian Phenotype Terms assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Nr5a1tm1Klp/Nr5a1tm1Klp

        involves: 129P2/OlaHsd * C57BL/6 * DBA/2
  • lethality-postnatal
  • postnatal lethality (MGI Ref ID J:35576)
    • animals die within 8 days of birth due to adrenal insufficiency
    • most untreated homozygotes die within 3 days of birth; one lived to 8 days of age; with daily corticosteroid treatment, 50% of null animals survive to weaning age
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:28763)
    • 16% of homozygotes survive for more than a month with corticosteroid intervention
  • endocrine/exocrine gland phenotype
  • abnormal testis morphology (MGI Ref ID J:35576)
    • males lacked testes
  • absent adrenal gland (MGI Ref ID J:35576)
    • a consequence of apoptosis within the developing adrenal gland: apparent at E11.5
  • absent ovary (MGI Ref ID J:35576)
    • females lacked ovaries
  • agonadal (MGI Ref ID J:35576)
    • a consequence of apoptosis in both sexes: apparent in the genital ridge at E12
  • reproductive system phenotype
  • abnormal primary sex determination (MGI Ref ID J:35576)
    • agonadal (MGI Ref ID J:35576)
      • a consequence of apoptosis in both sexes: apparent in the genital ridge at E12
  • abnormal testis morphology (MGI Ref ID J:35576)
    • males lacked testes
  • absent ovary (MGI Ref ID J:35576)
    • females lacked ovaries
  • secondary sex reversal (MGI Ref ID J:35576)
    • genotypic males develop uteri, vagina and oviducts: apparent at E12
    • external genitalia of genotypic males are female

Nr5a1tm1Klp/Nr5a1tm1Klp

        involves: C57BL/6 * FVB
  • nervous system phenotype
  • abnormal hypothalamus morphology (MGI Ref ID J:83384)
    • impaired terminal differentiation of ventromedial hypothalamic neurons

Gene & Allele Details

Allele Symbol Nr5a1tm1Klp
Allele Name targeted mutation 1, Keith L Parker
Common Name(s) Ftz-F1; Ftz-F1-; Ftzf1tm1Klp; SF-1; Sf1-; Sf-; sf-1-;
Mutation Made By Keith Parker,   Univ Texas Southwestern Medical Center
Strain of Origin129P2/OlaHsd
ES Cell Line NameE14TG2a
ES Cell Line Strain129P2/OlaHsd
Gene Symbol and Name Nr5a1, nuclear receptor subfamily 5, group A, member 1
Chromosome 2
Gene Common Name(s) AD4BP; Ad4BP/SF-1; ELP; FTZ1; FTZF1; Ftz-F1; Ftzf1; SF-1; SF1; adrenal 4-binding protein; fushi tarazu 1 factor homolog, (Drosophila); steroidogenic factor 1;
Molecular Note A neomycin cassette was inserted into exon 4, which disrupted sequences encoding the second zinc finger of the DNA binding domain. [MGI Ref ID J:35576]

Control Information

  Allele   Control
 Nr5a1tm1Klp  Heterozygote from the colony
 Nr5a1tm1Klp  000671 DBA/2J
   Wildtype mice from the colony or DBA/2J mice (Stock No. 000671) may be used as controls.
 
  Considerations for Choosing Controls

Colony Maintenance

Breeding & HusbandryThis strain is maintained by mating heterozygous breeder pairs.

Related Strains

Strains carrying other alleles of Nr5a1
007041   B6Ei.129P2-Nr5a1tm2Klp/EiJ
007042   D2.129P2(B6)-Nr5a1tm2Klp/EiJ
006364   FVB-Tg(Nr5a1-cre)2Lowl/J
View Strains carrying other alleles of Nr5a1     (3 strains)

Additional Web Information

Congenic Nomenclature

Research Applications

This mouse can be used to support research in many areas including:

Nr5a1tm1Klp related

Developmental Biology Research
Neurodevelopmental Defects

Endocrine Deficiency Research
Hypothalamus/Pituitary Defects

Neurobiology Research
Neurodevelopmental Defects

Reproductive Biology Research
Developmental Defects Affecting Gonads
Endocrine Deficiencies Affecting Gonads
Fertility Defects

References

Selected Reference(s)

Luo X; Ikeda Y; Parker KL. 1994. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77(4):481-90. [PubMed: 8187173]  [MGI Ref ID J:35576]

Additional References

Price and Supply Information

Strain Name: D2.129P2(B6)-Nr5a1tm1Klp/EiJ
Stock Number: 003219

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

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The Jackson Laboratory's Genotype Promise

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.
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