Human Disease and Mouse Model Detail

Human Disease

Term: Schwartz-Jampel Syndrome, Type 1; SJS1
OMIM ID: 255800

Synonyms

Chondrodystrophic Myotonia; Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities; Schwartz-Jampel-Aberfeld Syndrome; Schwartz-Jampel Syndrome; SJS; SJA Syndrome

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	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Hspg2^tm1.1Soni/Hspg2^tm1.1Soni			involves: 129S/SvEv * C57BL/6	J:139975
Hspg2^tm1Rdgr/Hspg2^tm1Rdgr			involves: 129S1/Sv * 129X1/SvJ	J:121855
Hspg2^tm1Soni/Hspg2^tm1Soni			involves: 129S/SvEv * C57BL/6	J:139975
Hspg2^tm1Soni/Hspg2^tm1Soni			involves: 129S/SvEv * DBA/2J	J:183547
No similarity to the expected human disease phenotype was found.²
NOT	Hspg2^tm1.1Rdgr/Hspg2^tm1.1Rdgr		involves: 129S1/Sv * 129X1/SvJ	J:121855
NOT	Hspg2^tm1Nid/Hspg2^tm1Nid		involves: 129X1/SvJ * C57BL/6	J:74542

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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