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Allele : Ar<Tfm> androgen receptor; testicular feminization

Primary Identifier  MGI:1856319 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Ar
Inheritance Mode  Dominant Strain of Origin  (STOCK Eda<Ta> x Atp7a<Mo-blo>)F1
Is Recombinase  false Is Wild Type  false
description  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.
molecularNote  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.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Tfm,
  • Tfm
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

5 Carried By

0 Driven By

87 Publication categories