Human Disease and Mouse Model Detail

Human Disease

Term: Friedreich Ataxia 1; FRDA
OMIM ID: 229300

Synonyms

FRDA1

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...

Fxn

FXN

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(FXN)YG8Pook

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
Fxn^tm1Mkn/Fxn^tm1Mkn Tg(FXN)YG8Pook/0		involves: 129/Sv * C57BL/6 * CBA	J:114840
Fxn^tm2Mkn/Fxn^tm2.1Mkn Tg(Ckmm-cre)1Lrsn/0	3	involves: 129 * C57BL/6J	J:75420
Fxn^tm2Mkn/Fxn^tm2.1Mkn Tg(Eno2-cre)39Jme/0	3	involves: 129 * C57BL/6J	J:75420
Models involving transgenes or other mutation types.²
Fxn^tm1Mkn/Fxn^tm1Mkn Tg(FXN)YG8Pook/0		involves: 129/Sv * C57BL/6 * CBA	J:114840

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.
³Conditionally 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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