Human Disease and Mouse Model Detail

Human Disease

Term: Split-Hand/Foot Malformation 1; SHFM1
OMIM ID: 183600

Synonyms

Ectrodactyly; ECD; Split-Hand Deformity; Split-Hand/Foot Deformity 1; SHFD1; SHSF1

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...

Dlx5	DLX5
Dlx6	DLX6

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

SHFM1

...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 are distinct.¹
Dlx5/Dlx6^tm1Tlu/Dlx5/Dlx6^tm1Tlu		Not Specified	J:76480
Dlx5/Dlx6^tm1Levi/Dlx5/Dlx6^tm1Levi		Not Specified	J:77244
Dlx5/Dlx6^tm1Tlu/Dlx5/Dlx6^tm1Tlu		Not Specified	J:76480
Dlx5/Dlx6^tm1Levi/Dlx5/Dlx6^tm1Levi		Not Specified	J:77244

¹Human 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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