Prader-Willi syndrome Disease Ontology Browser

Disease Ontology Browser

Prader-Willi syndrome (DOID:11983)
Alliance: disease page
Synonyms: Prader Willi syndrome
Alt IDs: OMIM:176270, ICD10CM:Q87.11, ICD9CM:759.81, MESH:D011218, NCI:C75463, ORDO:739, UMLS_CUI:C0032897
Definition: A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.

Term Browser
Genes (6)
Models (20)

Disease References using Mouse Models (20)

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Gene: Ndn

Allelic Composition	Genetic Background	Reference	Phenotypes
Ndntm1Ky/Ndn+	involves: C57BL/6 * CBA * ICR/Slc	J:100024	View
Del(7Herc2-Mkrn3)13FRdni/+	involves: C57BL/6 * CD-1 * SJL	J:56614	View
Ndntm1Stw/Ndn+	involves: 129S1/Sv * C57BL/6	J:57890	View
Ndntm1.1Mus/Ndn+	B6.129S2-Ndn^tm1.1Mus	J:119656	View
Ndntm2Stw/Ndn+	involves: 129S1/Sv * C57BL/6	J:57890	View
Ndntm1.1Mus/Ndn+	involves: 129S2/SvPas * C57BL/6J	J:66557	View
Ndntm1Stw/Ndn+	involves: 129S1/Sv * FVB	J:57890	View
Ndntm2Stw/Ndn+	involves: 129S1/Sv * C57BL/6J	J:82266	View

NOT Models
No similarity to the expected human disease phenotype was found.

Allelic Composition	Genetic Background	Reference	Phenotypes
Ndntm1Alb/Ndntm1Alb	involves: 129S7/SvEvBrd	J:55267	View
Ndntm1Alb/Ndn+	involves: 129S7/SvEvBrd	J:55267	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Gene: Snrpn

Allelic Composition	Genetic Background	Reference	Phenotypes
Snrpntm1Rsnk/Snrpn+	either: 129S1-Snrpn^tm1Rsnk or (involves: 129S1/Sv * C57BL/6J)	J:105412	View
Snrpntm2Alb/Snrpn+	involves: 129S7/SvEvBrd * C57BL/6J	J:70275	View
Del(7Herc2-Mkrn3)13FRdni/+	involves: C57BL/6 * CD-1 * SJL	J:56614	View
Snrpntm2Cbr/Snrpn+	involves: 129S1/Sv * C57BL/6	J:47318	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Gene: Htr2c

Allelic Composition	Genetic Background	Reference	Phenotypes
Htr2ctm1.1Eme/Y	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6	J:163043	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Gene: Magel2

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(7Herc2-Mkrn3)13FRdni/+	involves: C57BL/6 * CD-1 * SJL	J:56614	View
Magel2tm1Stw/Magel2tm1Stw	C57BL/6-Magel2^tm1Stw/J	J:233299	View
Magel2tm1Stw/Magel2+	C57BL/6-Magel2^tm1Stw	J:144836	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Cytogenetic Marker: Del(7Herc2-Mkrn3)13FRdni

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(7Herc2-Mkrn3)13FRdni/+	involves: C57BL/6 * CD-1 * SJL	J:56614	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Cytogenetic Marker: Del(7Ipw-Snord116)1Jbro

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(7Ipw-Snord116)1Jbro/+	involves: 129S7/SvEvBrd * C57BL/6	J:242655	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Complex/Cluster/Region: Snord116

Allelic Composition	Genetic Background	Reference	Phenotypes
Snord116tm1.1Uta/Snord116+	involves: C57BL/6J	J:131427	View
Snord116tm1Uta/Snord116+ Tg(Zp3-cre)93Knw/0	involves: C57BL/6J	J:131427	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Cytogenetic Marker: T(7;18)50H

Allelic Composition	Genetic Background	Reference	Phenotypes
T(7;18)50H/+	involves: 101/H * C3H/HeH	J:3618	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Cytogenetic Marker: T(7;18)50H

Allelic Composition	Genetic Background	Reference	Phenotypes
T(7;18)50H/+	involves: 101/H * C3H/HeH	J:3618	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome
Associated Mouse Transgene: Tg(Igh-Lmp2a)13FRdni

Allelic Composition	Genetic Background	Reference	Phenotypes
Tg(Igh-Lmp2a)13FRdni/0	involves: C57BL/6 * CD-1 * SJL	J:56614	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome

NOT Models
No similarity to the expected human disease phenotype was found.

Allelic Composition	Genetic Background	Reference	Phenotypes
Frat1tm1Brn/Frat1tm1Brn Frat2tm2Brn/Frat2tm2Brn Peg12tm1Brn/Peg12tm1Brn	involves: 129P2/OlaHsd * FVB	J:96034	View

Mouse Models

Human Disease Modeled: Prader-Willi syndrome

NOT Models
No similarity to the expected human disease phenotype was found.

Allelic Composition	Genetic Background	Reference	Phenotypes
Peg12tm1Brn/Peg12tm1Brn	involves: 129P2/OlaHsd * FVB	J:96034	View

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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