RGD Reference Report - Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. - Rat Genome Database

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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

Authors: Kitamura, K  Yanazawa, M  Sugiyama, N  Miura, H  Iizuka-Kogo, A  Kusaka, M  Omichi, K  Suzuki, R  Kato-Fukui, Y  Kamiirisa, K  Matsuo, M  Kamijo, S  Kasahara, M  Yoshioka, H  Ogata, T  Fukuda, T  Kondo, I  Kato, M  Dobyns, WB  Yokoyama, M  Morohashi, K 
Citation: Kitamura K, etal., Nat Genet. 2002 Nov;32(3):359-69. Epub 2002 Oct 15.
RGD ID: 11565832
Pubmed: PMID:12379852   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1009   (Journal Full-text)

Male embryonic mice with mutations in the X-linked aristaless-related homeobox gene (Arx) developed with small brains due to suppressed proliferation and regional deficiencies in the forebrain. These mice also showed aberrant migration and differentiation of interneurons containing gamma-aminobutyric acid (GABAergic interneurons) in the ganglionic eminence and neocortex as well as abnormal testicular differentiation. These characteristics recapitulate some of the clinical features of X-linked lissencephaly with abnormal genitalia (XLAG) in humans. We found multiple loss-of-function mutations in ARX in individuals affected with XLAG and in some female relatives, and conclude that mutation of ARX causes XLAG. The present report is, to our knowledge, the first to use phenotypic analysis of a knockout mouse to identify a gene associated with an X-linked human brain malformation.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
X-linked lissencephaly 2  IAGP 11565832DNA:mutations:multiple (human)RGD 
X-linked lissencephaly 2  ISOARX (Homo sapiens)11565832; 11565832DNA:mutations:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Arx  (aristaless related homeobox)

Genes (Mus musculus)
Arx  (aristaless related homeobox)

Genes (Homo sapiens)
ARX  (aristaless related homeobox)


Additional Information