A great deal of PWS research uses cellular and animal models. Below is a list of some of the most commonly used PWS cellular models and mouse models. Each table includes a brief description of the model, a link to the primary publication, and Principal Investigator (PI) information. Additional PWS iPSC models are currently in development; please contact us for additional information.

Cellular Models

iPS Cell Line Name Other names Sample Type Sample Description  Availability  Publication PI
PWS UPD1.2 PWS maternal UPD human fibroblasts Uniparental Disomy PWS iPSC Biobank Langouet et al. 2018 Lalande, Chamberlain
PWS2.9 PWS small atypical deletion clone 9 human fibroblasts Small atypical deletion  PWS iPSC Biobank Martins-Taylor et al. 2014 Lalande, Chamberlain
PWS1.7 PWS deletion 1 clone 7 human fibroblasts Deletion (Type 2)   Chamberlain et al. 2010 Lalande, Chamberlain
PWS2.8 PWS small atypical deletion clone 8 human fibroblasts Small atypical deletion    Martins-Taylor et al. 2014 Lalande, Chamberlain
PWS iPSC-1 (BP2-BP3 del)   human skin fibroblasts Deletion (Type 2)   Stelzer et al. 2014 Benvenisty
PWS iPSC-2 (SNRPN exon 2 paternal translocation)   human skin fibroblasts Translocation   Stelzer et al. 2014 Benvenisty
PWS iPSC Del    human skin fibroblasts Deletion   Okuno et al. 2017 Okano
129-CUMC/UF   human skin fibroblasts Deletion (Type 2)   Burnett et al. 2016 Leibel
139-CUMC/UF   human skin fibroblasts Deletion (Type 1)   Burnett et al. 2016 Leibel
031M-CUMC/INSERM   human skin fibroblasts Deletion (Type 1)   Burnett et al. 2016 Leibel
066MD-CUMC/INSERM   human skin fibroblasts Microdeletion   Burnett et al. 2016 Leibel
iPSC-derived fibroblast GM21889 (coriell), translocation   human skin fibroblasts Translocation   Yang et al. 2010 Pei, Esteban 
KSCBi009-A KNIH-PWS003i-A peripheral blood mononuclear cells Deletion Available in the Korean Stem Cell Bank (KSCB)  Kim et al. 2020 Kim
 

 

Mouse Models

This table of PWS mouse models was adapted from the publication by Resnick et al, outlining recommendations for the investigation of animal models of PWS.  For the full list of PWS models, see the publication here.  Additional PWS animal models are currently in development; please contact us for additional information (theresa.strong@fpwr.org).

Mouse Model Name Gene(s) of Interest Tested Phenotypes Primary Reference Lab / PI for Strain Availability 
Imprinting center deletion; Snrpntm2Cbr; deltaPWS-IC; PWS-IC deletion; PWS-ICdel; PWS-ICdel35kb Imprinting, all PWS genes postnatal lethality, postnatal growth, reduced activity, abnormal behavior

Yang et al. 1998, PI: Resnick, Yang 

Cryopreserved embryos at JAX (Resnick)
Snrpntm2.1Kaj ;PWS-ICflox6kb Conditional Viable, postnatal growth

DuBose et al. 2012, PI: Resnick 

Cryopreserved embryos at JAX (Resnick)
Del(7Ube3a-Snrpn)1Alb Snrpn-Ube3a deletion Imprinting, all PWS genes postnatal lethality, postnatal growth, fertile, not obese

Tsai et al. 1999, PI: Beaudet 

A Beaudet
Snrpntm2Alb; PW-ICdelta4.8 Imprinting, all PWS genes postnatal lethality, postnatal growth retardation

Bressler et al. (2001), PI: Beaudet 

A Beaudet
Snord116-Brosius; Del(7Ipw-Snord116)1Jbro; Ipw-Snord116/Mbii-85Bro deletion Imprinting, Ipw, Snord116 Postnatal lethality, postnatal growth retardation after P5 not obese, fertile

Skryabin et al. 2007, PI : Brosius 

Brosius
Snord116-Francke; Snord116tm1.1Uta; Snord116tm1Uta (conditional); Snord116/Mbii-85Uta Imprinting, Snord116 viable, postnatal growth retardation after P2, low Igf1, Normal pituitary, lean body composition, fertile, delayed puberty, abnormal behavior, abnormal feeding and metabolism

Ding et al. 2008, PI: Francke 

Register interest for cryopreserved embryos at JAX (Francke) 
Ndn-Muscatelli; B6.129S2-Ndntm1.1Mus Necdin Postnatal lethality, respiratory defect, serotonergic, not obese, fertile, reduced hypothalamic GnRH neurons, small testes, normal motor function, abnormal behavior, defective muscle healing

Muscatelli et al. 2000, PI: Muscatelli 

Muscatelli
Ndn-Wevrick; B6.129S1(Cg)-Ndntm2Stw/J Necdin Postnatal lethality, respiratory defect, abnormal histology-nervous system, abnormal muscle, delayed cellular migration, impaired intracellular signaling, delayed GnRH neuron migration, adiposity

Gerard et al. 1999, PI: Wevrick 

Cryopreserved at JAX (Wevrick)
Magel2-Wevrick; C57BL/6-Magel2tm1Stw/J Magel2 Prenatal lethality, normal postnatal viability, postnatal growth retardation, increased fat to muscle, abnormal endocrine function, abnormal hypoglycemia response, abnormal behavior, abnormal brain MRI, progressive infertility, abnormal metabolism, abnormal food consumption, abnormal circadian rhythm

Kozlov et al. 2007, PI: Wevrick 

Live at JAX (Wevrick)
Magel2-Muscatelli; Magel2tm1.1Mus Magel2 Postnatal lethality, impaired neonatal feeding, normal organ histology, postnatal growth, oxytocin system defect, no obesity, abnormal circadian rhythm, infertility, abnormal behavior

Schaller et al. 2010, PI: Muscatelli 

Muscatelli
Snrpntm1Kaj; PWS-IC Hs Imprinting, all PWS genes postnatal lethality, postnatal growth retardation, fertile

Johnstone et al. 2006, PI: Resnick 

 Resnick