The androgen receptor; testicular feminization (ArTfm) allele in this strain is a dominant, spontaneous mutation on the X chromosome that results in abnormal development of reproductive organs and tissues in males.
Read More +Genetic Background | Generation |
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000664 C57BL/6J |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | a | nonagouti |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Eda | ectodysplasin-A |
Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Ar | androgen receptor |
Testicular feminization (ArTfm) is a dominant spontaneous mutation on the X chromosome. Hemizygous male mice are outwardly female in appearance except that the vagina does not open until 3 months of age if at all. Male reproductive development is abnormal leading to very small testes, and the absense of vas deferens, the epididymis, and male accessory glands. Spermatogonia and Sertoli cells are present in the testes, but spermatogenesis does not proceed past meiotic prophase. Leydig cells, which normally produce androgen in males, fail to develop normally. This strain is also segregating for the tabby 6J mutation (EdaTa-6J) that affects both the coat color and hair pattern growth. The tabby mutation is maintained in repulsion with the testicular feminization mutation and is used as a coat color marker to assist in identifying resulting genotypes obtained from matings.
A 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. While the 27 markers throughout the genome suggested a C57BL/6 genetic background, 2 of 5 markers that determine C57BL/6J from C57BL/6N were found to be segregating. These data suggest the mice sent to The Jackson Laboratory Repository were on a C57BL/6N genetic background.
Allele Name | tabby 6 Jackson |
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Allele Type | Spontaneous |
Allele Synonym(s) | Ta6J; Ta2; Tabby |
Gene Symbol and Name | Eda, ectodysplasin-A |
Gene Synonym(s) | |
Strain of Origin | C57BL/6J-tp3J/J |
Chromosome | X |
Molecular Note | This allele is defined by a base pair deletion (at position 1049) resulting in a frameshift mutation. |
Allele Name | testicular feminization |
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Allele Type | Spontaneous |
Allele Synonym(s) | Tfm |
Gene Symbol and Name | Ar, androgen receptor |
Gene Synonym(s) | |
Strain of Origin | (STOCK EdaTa x Atp7aMo-blo)F1 |
Chromosome | X |
General Note | ArTfm acts by causing insensitivity to androgens due to a defect in androgen-binding receptor present in cytosol and nucleus. Most responses to androgens are absent or defective in ArTfm/Y males and are not inducible by administration of androgens (J:5221, J:5532). Androgen receptor is found in kidney, submandibular gland (J:5667) and brain (J:5927). ArTfm/Y males have about 20-25 percent of normal testosterone-binding activity in brain (J:6096) and 10-20 percent in kidney. |
Molecular Note | A frameshift mutation resulting from the deletion of a single cytosine residue generated a premature stop codon at residue 412. The nonsense mutation is expected to preclude the translation of both the DNA- and steroid-binding domains. |
When using the testicular feminization mouse strain in a publication, please cite the originating article(s) and include JAX stock #001809 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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X linked - Compound Heterozygous females for Eda<Ta-6J> and Ar<Tfm>, Hemizyous males for Eda<Ta-6J>, 1 pair minimum |
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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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