Human Disease and Mouse Model Detail

Human Disease

Term: Split-Hand/Foot Malformation 3; SHFM3
OMIM ID: 246560

Synonyms

Chromosome 10q24 Duplication Syndrome; Limb Deficiencies, Distal, with Micrognathia; Shsf3

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...

Fbxw4	FBXW4
Mdac	none identified

...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
Fbxw4^Dac-2J/Fbxw4⁺ mdac/mdac		CBy.MRL-Fbxw4^Dac-2J/J	J:133888
Fbxw4^Dac/Fbxw4⁺ mdac/mdac		involves: SM/Ckc	J:29220, J:133888

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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12