Ar<Tfm> Spontaneous Allele Detail MGI Mouse (MGI:1856319)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Mice Carrying this Mutation:	268 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:	22 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:	86 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23