Ar^Tfm
Spontaneous Allele Detail

Summary

• Symbol: Ar^Tfm
• Name: androgen receptor; testicular feminization
• MGI ID: MGI:1856319
• Synonyms: Tfm
• Gene: Ar Location: ChrX:97192375-97366821 bp, + strand Genetic Position: ChrX, 42.82 cM
• Alliance: Ar^Tfm page

Mutation origin

• Strain of Origin: (STOCK Eda^Ta x Atp7a^Mo-blo)F1

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: 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. (J:712, J:1264, J:11219, J:19598, J:30797)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	269 assay results
In Structures Affected by this Mutation:	10 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Ar^Tfm

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ar Mutation: 23 strains or lines available

Notes

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.

References

• Original: J:30664 Lyon MF, Testicular feminization, proposed symbol Tfm. Mouse News Lett. 1969;41:28
• All: 87 reference(s)