Human Disease and Mouse Model Detail

Human Disease

Term: Dyssegmental Dysplasia, Silverman-Handmaker Type; DDSH
OMIM ID: 224410

Synonyms

Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type; Dyssegmental Dwarfism, Silverman-Handmaker Type

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...

Hspg2

HSPG2

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Hspg2^tm1Nid/Hspg2^tm1Nid		involves: 129X1/SvJ * C57BL/6	J:74542
Hspg2^tm1Ref/Hspg2^tm1Ref		involves: 129S1/Sv * 129X1/SvJ	J:84739

¹Human genes are associated with this disease. Mouse model genotypes 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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