B6.Cg-A^w-J Eda^Ta-6J +/+ Ar^Tfm/J

Stock number: 001809
Product name: testicular feminization
Research areas: Dermatology Research, Developmental Biology Research, Endocrine Deficiency Research, Mouse/Human Gene Homologs, Reproductive Biology Research, Sensorineural Research

Description

The androgen receptor; testicular feminization (Ar^Tfm) 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.

Detailed description

Testicular feminization (Ar^Tfm) 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 (Eda^Ta-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.

Development

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

Symbol: A^w-J
Name: white bellied agouti Jackson
MGI accession ID: MGI:1855946
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Chromosome: 2
Strain of origin: C57BL/6J

Allele

Symbol: Ar^Tfm
Name: testicular feminization
MGI accession ID: MGI:1856319
Generation method: Spontaneous
Attributes: Null/Knockout
Marker symbol: Ar
Marker name: androgen receptor
Chromosome: X
Strain of origin: (STOCK Eda^Ta x Atp7a^Mo-blo)F1
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.
General note: Ar^Tfm 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 Ar^Tfm/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). Ar^Tfm/Y males have about 20-25 percent of normal testosterone-binding activity in brain (J:6096) and 10-20 percent in kidney.

Allele

Symbol: Eda^Ta-6J
Name: tabby 6 Jackson
MGI accession ID: MGI:1856202
Generation method: Spontaneous
Marker symbol: Eda
Marker name: ectodysplasin-A
Chromosome: X
Strain of origin: C57BL/6J-tp^3J/J
Molecular note: This allele is defined by a base pair deletion (at position 1049) resulting in a frameshift mutation.