Human Disease and Mouse Model Detail

Human Disease

Term: Spondyloepiphyseal Dysplasia Congenita; SEDC
OMIM ID: 183900

Synonyms

SED Congenita; Spondyloepiphyseal Dysplasia, Congenital 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...

Col2a1

COL2A1

...both mouse and human orthologous genes.

Hapln1

HAPLN1

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Transgenes and
other mutation types

Tg(Col2a1*R789C)#Waho

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Col2a1^Lpk/Col2a1⁺		C.B6(C3)-Col2a1^Lpk	J:187141
Col2a1^Lpk/Col2a1⁺		involves: C3H/HeH * C57BL/6J	J:187141
Col2a1^sedc/Col2a1^sedc		involves: C57BL/6J	J:85735
Col2a1^tm1Prc/Col2a1^tm1Prc		involves: 129/Sv * C57BL/6	J:30041
Models with phenotypic similarity to human disease where etiologies are distinct.²
Hapln1^tm1Nid/Hapln1^tm1Nid		involves: 129S1/Sv * 129X1/SvJ	J:52575
Models involving transgenes or other mutation types.³
Tg(Col2a1*R789C)#Waho/0		involves: C57BL/6 * DBA/2	J:112540

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.
³Models involving transgenes or other mutation types may also appear in other sections of the table.

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