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| Nomenclature |
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Symbol:
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ArTfm
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Name:
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androgen receptor;
testicular feminization
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MGI ID: |
MGI:1856319 |
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Synonyms: |
Tfm |
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Gene:
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Ar
Location:
ChrX:98149721-98323215 bp, + strand
Genetic Position: ChrX,
42.82 cM
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Mutation
origin |
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Strain of Origin:
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(STOCK EdaTa x Atp7aMo-blo)F1
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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Mutation details: A frameshift mutation resulting from the deletion of a single cytosine residue generated a premature stop codon at residue 412. The nonsenes 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)
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Inheritance: | |
Dominant |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
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.
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| References |
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Original: |
J:30664
Lyon MF,
"Testicular feminization, proposed symbol Tfm"
Mouse News Lett 1969;41():28
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All: |
65 reference(s)
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Analysis Tools
