Human Disease and Mouse Model Detail

Human Disease

Term: Saethre-Chotzen Syndrome; SCS
OMIM ID: 101400

Synonyms

Acrocephalosyndactyly, Type III; ACS3; ACS III; Chotzen Syndrome

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...

Twist1

TWIST1

...both mouse and human orthologous genes.

Msx2

MSX2

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

FGFR2

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

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⁺ Twist1^tm1Bhr/Twist1⁺		involves: 129S4/SvEvJae * 129S7/SvEvBrd * BALB/c * C57BL/6	J:87044
Twist1^Pas/Twist1^Pas		involves: C57BL/6 * PDT/Pas	J:86815
Twist1^Pas/Twist1⁺		involves: C57BL/6 * PDT/Pas	J:86815
Twist1^Pde/Twist1⁺		involves: 129S1/Sv * C57BL/6J	J:69450
Twist1^Pde/Twist1^Pde		involves: 129S1/Sv * C57BL/6J	J:69450
Twist1^tm1Bhr/Twist1⁺		involves: 129S7/SvEvBrd * C57BL/6	J:44379
Twist1^tm1Bhr/Twist1^tm1Bhr		involves: 129S7/SvEvBrd * C57BL/6	J:44379
Twist1^tm1Bhr/Twist1⁺		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	J:79294

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

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