Human Disease and Mouse Model Detail

Human Disease

Term: Tetralogy of Fallot; TOF
OMIM ID: 187500

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...

Zfpm2

ZFPM2

...both mouse and human orthologous genes.

avc6	none identified
Cited2	CITED2
Dnahc5	DNAH5
Fgf8	FGF8
Gja5	GJA5
Hey2	HEY2
Invs	INVS
Ntf3	NTF3
Phc1	PHC1

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

Gata6	GATA6
Gdf1	GDF1
Jag1	JAG1
Nkx2-5	NKX2-5
Tbx1	TBX1

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

Transgenes and
other mutation types

Del(11Mpo-Chad)18Brd		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Dp(16Lipi-Zfp295)1Yey

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Zfpm2^tm1Sho/Zfpm2^tm1Sho		involves: 129S1/Sv	J:62879, J:78688
Models with phenotypic similarity to human disease where etiologies are distinct.²
avc6/avc6		involves: C57BL/6J * FVB/N	J:163196
Cited2^tm1Ycy/Cited2^tm1Ycy		involves: C57BL/6J	J:78364
Dnahc5^hlb612/Dnahc5^hlb612		involves: C57BL/6J	J:130755
Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(Msx2-cre)5Rem/0	4	involves: 129P2/OlaHsd	J:66266
Gja5^tm1Paul/Gja5^tm1Paul		involves: 129/Sv * C57BL/6	J:109301
Gja5^tm1Paul/Gja5⁺		involves: 129/Sv * C57BL/6	J:109301
Hey2^tm1Uts/Hey2^tm1Uts		either: (involves: 129X1/SvJ) or (involves: C57BL/6)	J:79025
Invs^inv/Invs^inv		FVB/N-Invs^inv	J:48533
Ntf3^tm1Par/Ntf3^tm1Par		involves: 129S1/Sv	J:35639
Phc1^tm1Os/Phc1^tm1Os		involves: 129S2/SvPas * C57BL/6	J:43764
Models involving transgenes or other mutation types.³
Del(11Mpo-Chad)18Brd/+		involves: 129S7/SvEvBrd * C57BL/6	J:109163
Dp(16Lipi-Zfp295)1Yey/0		involves: 129S7/SvEvBrd	J:121790

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.
⁴Conditionally targeted allele(s)

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