Human Disease and Mouse Model Detail

Human Disease

Term: Thanatophoric Dysplasia, Type II; TD2
OMIM ID: 187601

Synonyms

Cloverleaf Skull with Thanatophoric Dwarfism; Thanatophoric Dysplasia with Kleeblattschaedel; Thanatophoric Dysplasia with Straight Femurs and Cloverleaf Skull

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.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Fgfr3^tm4.1Cxd/Fgfr3⁺		involves: 129S6/SvEvTac * NIH Black Swiss	J:63198
Fgfr3^tm4Cxd/Fgfr3⁺ Tg(Col2a1-cre)1Bhr/0	2	involves: 129S6/SvEvTac * C57BL/6 * NIH Black Swiss * SJL	J:63198

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Conditionally targeted allele(s)

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