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Table 1 Genes on human chromosome 15q11–q13 and the phenotypes of their genetically engineered mice

From: The neurobiology of mouse models syntenic to human chromosome 15q

Locus

Line

Phenotypes

Reference

Mkrn3

KO

No obvious phenotypes

Jong et al. 1999

Magel2

Targeted reporter (LacZ insertion)

Neonatal growth retardation, excessive weight gain, and increased adiposity after weaning

Bischof et al. 2007

Targeted reporter (LacZ insertion)

Altered circadian rhythms, hypophagia, reduced orexin neurons in the lateral hypothalamus

Kozlov et al. 2007

Targeted reporter (LacZ insertion)

Extended and irregular estrous cycle, decreased testosterone, reduced olfactory preference for female odors

Mercer and Wevrick 2009

Conventional KO

Neonatal lethality due to impaired suckling

Schaller et al. 2010

Ndn

Conventional KO

Early postnatal lethality due to respiratory defect

Gerard et al. 1999

Targeted reporter (LacZ insertion)

No obvious phenotypes

Tsai et al. 1999a

Conventional KO

Postnatal lethality, reduced oxytocin producing and luteinizing hormone releasing hormone producing neuron, skin scraping, increased spatial learning

Muscatelli et al. 2000

Conventional KO

Reduced substance P containing neuron, high tolerance to thermal pain

Kuwako et al. 2005

Conventional KO

Central respiratory deficits, altered serotonergic metabolism, enlargement of 5-HT vesicles

Zanella et al. 2008

Conventional KO

Impaired tangential migration of cortical interneuron

Kuwajima et al. 2010

PWS-IC

Conventional KO

Died shortly after birth, small

Yang et al. 1998

Conventional KO

Imprinting defect

Bielinska et al. 2000

Gene targeting (SNRPN human exon 1 switch)

Paternal transmission postnatal lethality (not fully penetrant), growth deficiency. Loss of Ndn, Magel2, and Mkrn3 expression

Johnstone et al. 2006

Snurf

Conventional KO

No obvious phenotype

Tsai et al. 1999b

Snrpn

Conventional KO

No obvious phenotype

Yang et al. 1998

Conventional KO (Ex1 = 0.9 kb)

No obvious phenotype

Bressler et al. 2001

Conventional KO (Ex1 = 4.8 kb) PWS-IC+/−

40–50% lethality (strain dependency)

Bressler et al. 2001

MBII-85/Snord116

Chromosome engineering (Cre lox deletion)

Early onset postnatal growth deficiency, defect of motor learning, increased anxiety, hyperphagia

Ding et al. 2008

Chromosome engineering (Cre lox deletion)

Postnatal lethality (strain dependency), growth retardation

Skryabin et al. 2007

MBII-52/Snord115

Radiation induced mutant (large deletion) p30pUb

Paternal transmission: loss of MbII-52/Snord115 and Ube3a expression. No obvious phenotype

Ding et al. 2005

Conventional KO (Ex1 = 4.8 kb) PWS-IC+/−

Increased in editing of 5htr2c, impulsive responding, less locomotor activity, reactivity to palatable foodstuffs

Doe et al. 2009

Snurf-Snrpn to Ube3a deletion

Chromosome engineering (Cre-loxP deletion)

Partial postnatal lethality, growth deficiency

Tsai et al. 1999b

Ube3a

Conventional KO (maternal transmission)

Maternal transmission: reduced brain weight, impaired motor function, inducible seizures, deficit in context-dependent fear conditioning, abnormal hippocampal electroencephalographic recordings and severely impaired long-term potentiation

Jiang et al. 1998

Targeted reporter (maternal transmission LacZ insertion)

Maternal transmission: reduced brain weight, impaired motor function, impaired spatial learning, deficit in context-dependent fear conditioning, abnormal hippocampal electroencephalographic recordings

Miura et al. 2002

Targeted reporter (maternal transmission LacZ insertion)

Sleep disturbance

Colas et al. 2005

Conventional KO (maternal transmission)/CamKII-T305V/T306A double mutant

Rescued various abnormalities in Ube3a−/+ mutant; reduced seizure, improved motor coordination and spatial learning

van Woerden et al. 2007

YFP fused to Ube3a

Visualized ube3a protein, Ube3a is imprinted in all regions of the brain

Dindot et al. 2008

Conventional KO (maternal transmission)

Altered licking behavior, defects in rope climbing, grip strength, gait, and a raised beam task

Heck et al. 2008

Conventional KO (maternal transmission)

Impaired experience dependent maturation of excitatory cortical circuits, deficits in ocular dominance plasticity

Yashiro et al. 2009

Conventional KO (maternal transmission)

Lack of rapid and mature ocular dominance plasticity

Sato and Stryker 2010

Atp10a

Radiation induced chromosomal deletion p30PUb (Ube3a to Gabrb3 deletion)

Maternal deletion showed greater body weight, adiposity index, plasma insulin, leptin, triglyceride concentration

Dhar et al. 2004

Ube3a-Gabrb3

1.6 Mb deletion (Ube3a to Gabrb3) chromosome engineering

Similar to the phenotypes of Ube3a and Gabrb3 KO mice, increased USVs

Jiang et al. 2010

Gabrb3

Conventional KO mouse

90% KO mice display neonate (−24 h) lethal, 60% cleft palate, some mice are viable that showed hyperactive, higher sensitivity to sensory stimuli, motor difficulties, myoclonus, epileptic seizures

Homanics et al. 1997

Conventional KO mouse

Electroencephalographic abnormality, seizures, deficits in learning and memory, poor motor skills

DeLorey et al. 1998

Conventional KO mouse

44% decreased norepinephrine in spinal cord

Ugarte et al. 2001

Conventional KO mouse

Lower REM sleep time, greater EEG delta power

Wisor et al. 2002

Point mutation KI mouse (N265M; second transmembrane region)

Abolished suppression of noxious-evoked movements in response to the intravenous anesthetics

Jurd et al. 2003

Conventional KO mouse

Enlarged pericoerulear dendritic zone of the locus coeruleus, hypotonia, less marble burying behavior

Hashemi et al. 2007

Conventional KO mouse

Deficits in activities related to social behavior, altered exploratory behavior, hypoplasia of the cerebellar vermis

DeLorey et al. 2008

Conditional KO (CamKII or Synapsin I Cre)

Synapsin I = >60% died in neonate, CamKII = >30% died in 15–25 days of age, hyperactive, sensitive for etomidate

Ferguson et al. 2007

Gabra5

Conventional KO mouse

Enhanced spatial learning, decreased amplitude of IPSC, and enhanced amplitude of paired-pulse facilitation of fEPSP in CA1 of hippocampus

Collinson et al. 2002

Conventional KO mouse

Normal behavioral phenotype for fear-associated contextual learning

Cheng et al. 2006

Conventional KO mouse

Reduced threshold for the induction of LTP

Martin et al. 2010

Point mutation KI mouse (H105R; diazepam insensitive)

Impaired the activity of diazepam, reduction of Gabra5 protein level, facilitated trace fear conditioning

Crestani et al. 2002

Point mutation KI mouse (H105R)

Attenuated prepulse inhibition, increased spontaneous locomotor activity

Hauser et al. 2005

Gabrg3

No

No

No

Oca2

Spontaneous, ENU induced, radiation induced mutant mouse

Hypopigmentation, melanosomal defect

Gardner et al. 1992

Johnson et al. 1995

Herc2

Spontaneous, ENU induced, radiation induced mutant mouse (many mutants)

Sterility, defects in growth, coordination, fertility, maternal behavior. Jerky gait

Lehman et al. 1998

Walkowicz et al. 1999