Human Disease and Mouse Model Detail

Human Disease

Term: Prader-Willi Syndrome; PWS
OMIM ID: 176270

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...

Magel2	MAGEL2
Ndn	NDN
Snrpn	SNRPN

...both mouse and human orthologous genes.

Htr2c

HTR2C

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

Herc2	HERC2
Ipw	IPW
Mkrn3	MKRN3

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

Transgenes and
other mutation types

Del(7Herc2-Mkrn3)13FRdni		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Snord116
T(7;18)50H
Tg(Igh-Lmp2a)13FRdni

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Magel2^tm1Stw/Magel2⁺			C57BL/6-Magel2^tm1Stw	J:144836
Ndn^tm1.1Mus/Ndn⁺			B6.129S2-Ndn^tm1.1Mus	J:119656
Ndn^tm1.1Mus/Ndn⁺			involves: 129S2/SvPas * C57BL/6J	J:66557
Ndn^tm1Ky/Ndn⁺			involves: C57BL/6 * CBA * ICR/Slc	J:100024
Ndn^tm1Stw/Ndn⁺			involves: 129S1/Sv * C57BL/6	J:57890
Ndn^tm1Stw/Ndn⁺			involves: 129S1/Sv * FVB	J:57890
Ndn^tm2Stw/Ndn⁺			involves: 129S1/Sv * C57BL/6J	J:82266
Ndn^tm2Stw/Ndn⁺			involves: 129S1/Sv * C57BL/6	J:57890
Snrpn^tm1Kaj/Snrpn⁺			either: 129S1-Snrpn^tm1Kaj or (involves: 129S1/Sv * C57BL/6J)	J:105412
Snrpn^tm2Alb/Snrpn⁺			involves: 129S7/SvEvBrd * C57BL/6J	J:70275
Snrpn^tm2Cbr/Snrpn⁺			involves: 129S1/Sv * C57BL/6	J:47318
Models with phenotypic similarity to human disease where etiologies are distinct.²
Htr2c^tm1.1Eme/Y			involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6	J:163043
Models involving transgenes or other mutation types.³
Del(7Herc2-Mkrn3)13FRdni/+			involves: C57BL/6 * CD-1 * SJL	J:56614
Snord116^tm1.1Uta/Snord116⁺			involves: C57BL/6J	J:131427
Snord116^tm1Uta/Snord116⁺ Tg(Zp3-cre)93Knw/0		5	involves: C57BL/6J	J:131427
T(7;18)50H/+			involves: 101/H * C3H/HeH	J:3618
Tg(Igh-Lmp2a)13FRdni/0			involves: C57BL/6 * CD-1 * SJL	J:56614
No similarity to the expected human disease phenotype was found.⁴
NOT	Frat1^tm1Brn/Frat1^tm1Brn Frat2^tm2Brn/Frat2^tm2Brn Peg12^tm1Brn/Peg12^tm1Brn		involves: 129P2/OlaHsd * FVB	J:96034
NOT	Ndn^tm1Alb/Ndn⁺		involves: 129S7/SvEvBrd	J:55267
NOT	Ndn^tm1Alb/Ndn^tm1Alb		involves: 129S7/SvEvBrd	J:55267
NOT	Peg12^tm1Brn/Peg12^tm1Brn		involves: 129P2/OlaHsd * FVB	J:96034

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.
⁴One 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.
⁵Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12