Human Disease and Mouse Model Detail

Human Disease

Term: Androgen Insensitivity Syndrome; AIS
OMIM ID: 300068

Synonyms

Androgen Receptor Deficiency; AR Deficiency; DHTR Deficiency; Dihydrotestosterone Receptor Deficiency; Testicular Feminization Syndrome; TFM

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

...both mouse and human orthologous genes.

Fkbp4

FKBP4

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Transgenes and
other mutation types

Tg(TSPY)9Jshm

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Ar^Tfm/Y			STOCK Eda^Ta Atp7a^Mo-blo/+ +	J:5173
Ar^Tfm/Y Tg(TSPY)9Jshm/0			involves: NMRI * STOCK Eda^Ta Atp7a^Mo-blo	J:140803
Ar^Tfm/Y			involves: NMRI * STOCK Eda^Ta Atp7a^Mo-blo	J:140803
Ar^Tfm/Y			involves: STOCK Eda^Ta Atp7a^Mo-blo	J:140803
Ar^tm1.1Jdz/Y			involves: 129X1/SvJ * C57BL/6	J:122327
Ar^tm1.1Jdz/Y			B6.129X1-Ar^tm1.1Jdz	J:123057
Ar^tm1.1Verh/Y			involves: 129S1/Sv * 129X1/SvJ * Black Swiss * C57BL/6	J:88169
Ar^tm1Ska/Y Tg(CMV-cre)1Ipc/?		5	involves: C57BL/6 * CBA	J:85484
Models with phenotypic similarity to human disease where etiologies are distinct.²
Fkbp4^tm1Dvds/Fkbp4^tm1Dvds			involves: 129X1/SvJ * C57BL/6	J:98554
Fkbp4^tm1Shou/Fkbp4^tm1Shou			involves: 129S/SvEv	J:120960
Models involving transgenes or other mutation types.³
Ar^Tfm/Y Tg(TSPY)9Jshm/0			involves: NMRI * STOCK Eda^Ta Atp7a^Mo-blo	J:140803
No similarity to the expected human disease phenotype was found.⁴
NOT	Ar^tm4(AR)Dmr/Y		involves: 129S1/Sv * C57BL/6J	J:104360

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
³Models involving transgenes or other mutation types may also appear in other sections of the table.
⁴One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
⁵Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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