Human Disease and Mouse Model Detail

Human Disease

Term: Neural Tube Defects
OMIM ID: 182940

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...

Vangl1

VANGL1

...both mouse and human orthologous genes.

Mthfd1l	MTHFD1L
Pax1	PAX1
Tcf3	TCF3
Vangl2	VANGL2

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

Ccl2	CCL2
Fuz	FUZ
T	T

...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
Vangl1^Gt(XL802)Byg/Vangl1⁺ Vangl2^Lp/Vangl2⁺			involves: 129P2/OlaHsd * C57BL/6J * LPT/LeJ	J:132697
Models with phenotypic similarity to human disease where etiologies are distinct.²
Mthfd1l^{tm1b(EUCOMM)Wtsi}/Mthfd1l^{tm1b(EUCOMM)Wtsi}			involves: C57BL/6N * FVB/N	J:193285
Pax1^un/Pax1⁺ Tcf3^tm1Cmu/Tcf3^tm1Cmu			involves: 129P2/OlaHsd * C3H * C57BL/6	J:103567
No similarity to the expected human disease phenotype was found.³
NOT	Vangl1^Gt(XL802)Byg/Vangl1^Gt(XL802)Byg		involves: 129P2/OlaHsd * C57BL/6J	J:132697

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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