Human Disease and Mouse Model Detail

Human Disease

Term: Craniosynostosis, Type 2; CRS2
OMIM ID: 604757

Synonyms

Craniosynostosis, Boston-Type; CSB

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...

Msx2

MSX2

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(CMV-Msx2*P7H)1Rem		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Msx2)1Rem
Tg(Timp1-Msx2*P7H)1Rem

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Msx2^tm1Rilm/Msx2^tm1Rilm		either: (involves: 129S4/SvJae-Msx2^tm1Rilm) or (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6J)	J:61509
Models involving transgenes or other mutation types.²
Tg(CMV-Msx2*P7H)1Rem/0		involves: C57BL/6 * CBA/J	J:26513
Tg(Msx2)1Rem/0		involves: C57BL/6 * CBA/J	J:26513
Tg(Timp1-Msx2*P7H)1Rem/0		involves: C57BL/6 * CBA/J	J:26513

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models 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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