Human Disease and Mouse Model Detail

Human Disease

Term: Autism
OMIM ID: 209850

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...

Cadps2	CADPS2
Cntnap2	CNTNAP2
Dlg4	DLG4
En2	EN2
Ext1	EXT1
Gabrb3	GABRB3
Gstm1	GSTM1
Mapk1	MAPK1
Nlgn4l	none identified
Nrcam	NRCAM
Nrp2	NRP2
Nrxn1	NRXN1
Pten	PTEN
Shank3	SHANK3
Slc6a4	SLC6A4
Tbx1	TBX1

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

Nlgn3	NLGN3
Snrpn	SNRPN

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

Transgenes and
other mutation types

Del(7Slx1b-Sept1)4Aam		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Mov1/Tyr)OVE876BPay

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Cadps2^tm1Tfr/Cadps2^tm1Tfr		C57BL/6-Cadps2^tm1Tfr	J:121256
Cntnap2^tm1Pele/Cntnap2^tm1Pele		B6.129-Cntnap2^tm1Pele	J:177110
Dlg4^tm2.1Grnt/Dlg4^tm2.1Grnt		involves: 129P2/OlaHsd * C57BL/6J	J:175436
En2^tm1Alj/En2^tm1Alj		involves: 129S2/SvPas * C57BL/6	J:114464
Ext1^tm1Yama/Ext1^tm1Yama Tg(Camk2a-cre)2834Lusc/0	4	involves: 129S5/SvEvBrd * C57BL/6	J:180302
Gabrb3^tm1Geh/Gabrb3^tm1Geh		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	J:130259
Gstm1^tm1Gcw/Gstm1^tm1Gcw		involves: 129S/SvEv * C57BL/6	J:159701
Mapk1^tm1.2Kuta/Mapk1^tm1.2Kuta Tg(Nes-cre)1Kag/0	4	involves: 129P2/OlaHsd * C57BL/6J	J:176051
Nrcam^tm1Gmt/Nrcam^tm1Gmt		involves: 129S6/SvEvTac * Swiss Webster	J:153165
Nrp2^tm1.2Mom/Nrp2^tm1.2Mom		involves: 129P2/OlaHsd * C57BL/6 * FVB/NJ	J:166116
Nrxn1^tm1Sud/Nrxn1^tm1Sud		involves: 129 * C57BL/6	J:153748
Pten^tm1Rps/Pten⁺ Slc6a4^tm1Kpl/Slc6a4⁺		B6.129-Slc6a4^tm1Kpl Pten^tm1Rps	J:144937
Pten^tm2.1Ppp/Pten^tm2.1Ppp	4	involves: 129S1/Sv	J:181347
Shank3^tm1.1Pfw/Shank3⁺		B6.129S6-Shank3^tm1.1Pfw	J:173397
Shank3^tm1.2Bux/Shank3⁺		C57BL/6-Shank3^tm1.2Bux	J:175320
Shank3^tm1Yhj/Shank3^tm1Yhj		B6.129S7-Shank3^tm1Yhj	J:173402
Shank3^tm2Gfng/Shank3^tm2Gfng		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:171113
Slc6a4^tm1Kpl/Slc6a4^tm1Kpl		B6.129-Slc6a4^tm1Kpl	J:192363
Tbx1^tm1Rak/Tbx1⁺		B6.Cg-Tbx1^tm1Rak	J:177772
Models with phenotypic similarity to human diseases involving genes where ortholog is unknown.²
Nlgn4l^{Gt(XST093)Byg}/Nlgn4l^{Gt(XST093)Byg}		B6.129P2-Nlgn4x^{Gt(XST093)Byg}	J:131843
Models involving transgenes or other mutation types.³
Del(7Slx1b-Sept1)4Aam/+		involves: 129S7/SvEvBrd * C57BL/6N	J:176335
Tg(Mov1/Tyr)OVE876BPay/Y		FVB/N-Tg(Mov1/Tyr)OVE876BPay	J:167614
Tg(Mov1/Tyr)OVE876BPay/Tg(Mov1/Tyr)OVE876BPay		FVB/N-Tg(Mov1/Tyr)OVE876BPay	J:167614

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
²Genotypes include cases where the mouse structural gene or the human ortholog has not been identified.
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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