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 | 1.6Â 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 |