Human Disease and Mouse Model Detail

Human Disease

Term: Spondylocostal Dysostosis 1, Autosomal Recessive; SCDO1
OMIM ID: 277300

Synonyms

Costovertebral Dysplasia; Jarcho-Levin Syndrome; Spondylothoracic Dysostosis; Spondylothoracic Dysplasia; Vertebral Anomalies

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...

Dll3

DLL3

...both mouse and human orthologous genes.

Tbx6

TBX6

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

Mesp2

MESP2

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Dll3^tm1Rbe/Dll3^tm1Rbe		involves: 129P2/Ola * C57BL/6	J:75954
Models with phenotypic similarity to human disease where etiologies are distinct.²
Tbx6^rv/Tbx6^rv		involves: C57BL/J * C57BL/6J	J:8119

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.

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