Human Disease and Mouse Model Detail

Human Disease

Term: Leri-Weill Dyschondrosteosis; LWD
OMIM ID: 127300

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...

Shox2

SHOX2

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Shox2^tm1Ddu/Shox2^tm1.1Ddu Tg(Prrx1-cre)1Cjt/0	2	involves: 129S2/SvPas * C57BL/6J * SJL/J	J:107668

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.
²Conditionally 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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