Human Disease and Mouse Model Detail

Human Disease

Term: Schizophrenia; SCZD
OMIM ID: 181500

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...

Akt1	AKT1
Disc1	DISC1

...both mouse and human orthologous genes.

Avpr1a	AVPR1A
Chst3	CHST3
ckr	none identified
Cplx2	CPLX2
Ctsc	CTSC
Grin1	GRIN1
Lrrtm1	LRRTM1
Map2k7	MAP2K7
Map6	MAP6
Mdk	MDK
Nr4a2	NR4A2
Nrg1	NRG1
Nrxn1	NRXN1
Plcb1	PLCB1
Ppm1g	PPM1G
Ppp3r1	PPP3R1
Slc6a3	SLC6A3
Snap25	SNAP25
Srgap3	SRGAP3
Srr	SRR
Taar1	TAAR1
Zic2	ZIC2

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

Apol7b	APOL4
Apol8	APOL2
Chi3l1	CHI3L1
Comt	COMT
Dao	DAO
Drd3	DRD3
Dtnbp1	DTNBP1
Htr2a	HTR2A
Lgr4	LGR4
Mthfr	MTHFR
Rtn4r	RTN4R
Syn2	SYN2

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

Transgenes and
other mutation types

Tg(Camk2a-DISC1)10Asaw		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Camk2a-ESR1/Disc1*)2698.1Sva
Tg(Camk2a-tTA)1Mmay
Tg(Disc1/EGFP)M19Sshe
Tg(GFAP-tTA)#Hyms
Tg(tetO-Gnas)1593Mpke
Tg(tetO-HMOX1)#Hyms

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Akt1^tm1Mbb/Akt1^tm1Mbb			involves: 129P2/OlaHsd * C57BL/6	J:185487
Disc1^Rgsc1390/Disc1^Rgsc1390			B6.Cg-Disc1^Rgsc1390	J:120634
Disc1^tm1Kara/Disc1^tm1Kara			B6.129S6-Disc1^tm1Kara	J:107244
Disc1^tm1Kara/Disc1⁺			B6.129S6-Disc1^tm1Kara	J:107244
Models with phenotypic similarity to human disease where etiologies are distinct.²
Avpr1a^tm1Dgen/Avpr1a^tm1Dgen			involves: 129P2/OlaHsd * C57BL/6	J:101679
Chst3^tm1Dgen/Chst3^tm1Dgen			involves: 129P2/OlaHsd * C57BL/6	J:101679
Cplx2^tm1Rmnd/Cplx2^tm1Rmnd			B6NCrl.Cg-Cplx2^tm1Rmnd	J:175056
Ctsc^tm1Dgen/Ctsc^tm1Dgen			involves: 129P2/OlaHsd * C57BL/6	J:101679
Grin1^tm1Bhk/Grin1^tm1Bhk			involves: 129P2/OlaHsd * C57BL/6 * DBA/2	J:57125
Lrrtm1^tm1.1Jaru/Lrrtm1^tm1.1Jaru			involves: C57BL/6 * C57BL/6J	J:174350
Map2k7^tm1Pngr/Map2k7⁺			involves: 129P2/OlaHsd * C57BL/6J	J:188339
Map6^tm1Job/Map6^tm1Job			either: 129S2/SvPas or (involves: 129S2/SvPas * BALB/c)	J:79099
Mdk^tm1Tmu/Mdk^tm1Tmu			B6.129S2-Mdk^tm1Tmu	J:151029
Nr4a2^tm1Tpe/Nr4a2⁺			B6.129P2-Nr4a2^tm1Tpe	J:147544
Nrg1^tm2Zhou/Nrg1⁺			involves: 129S4/SvJae * C57BL/6	J:81106
Nrxn1^tm1Sud/Nrxn1^tm1Sud			involves: 129 * C57BL/6	J:153748
Plcb1^tm1Hssh/Plcb1^tm1Hssh			involves: 129/Sv * C57BL/6	J:151070
Ppm1g^tm1Dgen/Ppm1g⁺			involves: 129P2/OlaHsd * C57BL/6	J:101679
Ppp3r1^tm1Stl/Ppp3r1^tm1Stl Tg(Camk2a-cre)CW2Stl/0		6	C57BL/6-Ppp3r1^tm1Stl Tg(Camk2a-cre)CW2Stl	J:73203, J:84640
Slc6a3^tm1Mca/Slc6a3^tm1Mca			involves: 129P2/OlaHsd	J:31328
Snap25^Bdr/Snap25⁺			involves: BALB/cAnNCrl	J:119733
Srgap3^tm1.1Zi/Srgap3^tm1.1Zi			B6.129(SJL)-Srgap3^tm1.1Zi	J:192388
Srr^rgsc1872/Srr^rgsc1872			C57BL/6JJcl-Srr^rgsc1872	J:151337
Srr^tm1.2Jtc/Srr^tm1.2Jtc			involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6	J:158266
Taar1^tm1Tdw/Taar1^tm1Tdw			involves: 129S1/Sv * C57BL/6J	J:141501
Zic2^tm1Jaru/Zic2⁺			involves: 129S4/SvJae * C57BL/6J	J:174352
Models with phenotypic similarity to human diseases involving genes where ortholog is unknown.³
ckr/ckr			involves: C3H/HeRos * C57BL/10Ros	J:87399
Models involving transgenes or other mutation types.⁴
Tg(Camk2a-DISC1)10Asaw/?			C57BL/6-Tg(Camk2a-DISC1)10Asaw	J:124683
Tg(Camk2a-ESR1/Disc1*)2698.1Sva/0			involves: C57BL/6 * C57BL/6NTac	J:127235
Tg(Camk2a-tTA)1Mmay/0 Tg(tetO-Gnas)1593Mpke/0			B6.Cg-Tg(Camk2a-tTA)1Mmay Tg(tetO-Gnas)1593Mpke	J:166114
Tg(Disc1/EGFP)M19Sshe/0			involves: C57BL/6JCrl * CBA/CaCrl	J:143557
Tg(GFAP-tTA)#Hyms/0 Tg(tetO-HMOX1)#Hyms/0			involves: FVB	J:186620
No similarity to the expected human disease phenotype was found.⁵
NOT	Rtn4r^rgsc1836/Rtn4r^rgsc1836		C57BL/6JJcl-Rtn4r^rgsc1836	J:176996
NOT	Rtn4r^tm1Gogo/Rtn4r^tm1Gogo		involves: 129 * C57BL/6J	J:130368

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.
³Genotypes include cases where the mouse structural gene or the human ortholog has not been identified.
⁴Models involving transgenes or other mutation types may also appear in other sections of the table.
⁵One 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.
⁶Conditionally 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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