Human Disease and Mouse Model Detail

Human Disease

Term: Thanatophoric Dysplasia, Type I; TD1
OMIM ID: 187600

Synonyms

Platyspondylic Lethal Skeletal Dysplasia, San Diego Type; Thanatophoric Dwarfism; Thanatophoric Dysplasia; TD

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...

Fgfr3

FGFR3

...both mouse and human orthologous genes.

Hspg2

HSPG2

...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 disease where etiologies involve orthologs.¹
Fgfr3^tm1Llm/Fgfr3⁺			involves: 129S2/SvPas * C57BL/6J	J:147208
Fgfr3^tm5.1Cxd/Fgfr3⁺			involves: 129S6/SvEvTac	J:67780
Models with phenotypic similarity to human disease where etiologies are distinct.²
Hspg2^tm1Nid/Hspg2^tm1Nid			involves: 129X1/SvJ * C57BL/6	J:67299
No similarity to the expected human disease phenotype was found.³
NOT	Fgfr3^tm1Cxd/Fgfr3^tm1Cxd		involves: 129S6/SvEvTac * NIH Black Swiss	J:52438

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.
³One 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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