Human Disease and Mouse Model Detail

Human Disease

Term: Achondroplasia; ACH
OMIM ID: 100800

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.

Acan	ACAN
Npr2	NPR2
Pthlh	PTHLH
Spred2	SPRED2

...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	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Fgfr3^tm1.1Iwa/Fgfr3⁺			involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss	J:70061
Fgfr3^tm1Cxd/Fgfr3^tm1Cxd			involves: 129S6/SvEvTac * NIH Black Swiss	J:52438
Fgfr3^tm2Wei/Fgfr3⁺			involves: 129S1/Sv * 129X1/SvJ * MF1	J:54829
Fgfr3^tm3.1Cxd/Fgfr3^tm3.1Cxd			involves: 129S6/SvEvTac	J:69849
Fgfr3^tm3.1Cxd/Fgfr3⁺			involves: 129S6/SvEvTac	J:69849
Fgfr3^tm5.1Cxd/Fgfr3⁺			involves: 129S6/SvEvTac	J:67780
Models with phenotypic similarity to human disease where etiologies are distinct.²
Acan^cmd/Acan^cmd			involves: STOCK T t^low Itpr3^tf	J:5952, J:30795
Npr2^cn-2J/Npr2^cn-2J			B6;CBACa-A^w-J/A-Kcnj6^wv/+	J:72465
Npr2^cn-3J/Npr2^cn-3J			MRL/MpJ-Npr2^cn-3J/GrsrJ	J:170669
Npr2^cn/Npr2^cn			AKR/J	J:26341
Pthlh^tm1Hmk/Pthlh^tm1Hmk			either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)	J:16911
Spred2^Gt(XB228)Byg/Spred2^Gt(XB228)Byg			involves: 129P2/OlaHsd * C57BL/6	J:100826
No similarity to the expected human disease phenotype was found.³
NOT	Fgfr3^tm1Dor/Fgfr3^tm1Dor		involves: 129S6/SvEvTac * C57BL/6	J:32991

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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