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15q11-q13CNV Type: Duplication


Largest CNV size: 6100000 bp

Statistics Box:
Number of Reports: 10



Summary Information

Duplications at the 15q11-q13 loci on the maternally-derived chromosome are among the most prevalent CNVs in autistic populations. The corresponding duplication on the paternal chromosome is thought to confer less risk towards ASD pathogenesis. Deletions in this region are responsible for Angelman syndrome (deletion on maternal chromosome 15) and Prader-Willi syndrome (deletion on paternal chromosome 15)

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders.
Duplication
A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study.
Duplication
15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica...
Duplication
Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification.
Duplication
Phenomic determinants of genomic variation in autism spectrum disorders.
Duplication
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Duplication
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bolton_04_ASD_discovery_cases
 Referred to two clinical diagnostic centres in England (Cambridge and Southampton)
 181
 181 children diagnosed with ASD
 
 
 N/A
 0
 1
 1
 bolton_04_combined_discovery_cases
 Referred to two clinical diagnostic centres in England (Cambridge and Southampton)
 221
 181 children diagnosed with ASD, 40 children diagnosed with other disorders or no disorder
 Mean 7 yr 9 mo
 81.9% Male
 N/A
 0
 1
 1
 bolton_04_non-ASD_discovery_cases
 Referred to two clinical diagnostic centres in England (Cambridge and Southampton)
 40
 40 children diagnosed with other disorders (no ASD)
 
 
 N/A
 0
 0
 0
 bremer_09_ASD_discovery_cases
 ASD patients obtained from the Karolinska University Hospital (Sweden), Uppsala University (Sweden), and the John F. Kennedy Center (Denmark). Majority of cases were from simplex families (but at least 45 patients were from multiplex families).
 148
 ASD. All patients fulfilled DSM-IV criteria for ASD; the majority of cases were also assessed by ADI-R and ADOS. 31 syndromic cases, 84 non-syndromic cases, and 33 not further classified cases.
 NA
 NA
 6600000
 0
 2
 2
 cai_08_ASD_discovery_cases
 Unrelated individuals with autism or ASD recruited by SARC and/or AGRE
 279
 270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism
 Mean 7.94 yrs
 79.6% Male
 5700000
 0
 4
 4
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 6100000
 0
 3
 3
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 5008627
 0
 2
 2
 guilmatre_09_ASD_discovery_cases
 ASD cases from 4 units in Rouen, Tours, and Dijon (France) and in Messina (Italy). 9.6% of cases were familial (multiplex families), 8.5% of cases were syndromic.
 260
 257 cases with autism, 3 cases with Aspberger syndrome
 11.8
 80.5% Male
 4000000
 0
 1
 1
 koochek_06_ASD_discovery_cases
 Affected females from a three-generation family with a family history positive for autism/ASD recruited through ASD-CARC.
 2
 1 case diagnosed with autism (ADOS module 3), 1 case diagnosed with ASD (DSM-IV criteria)
 Range, 8 yrs. 7 mos.-38 yrs.
 100% Female
 10000000
 0
 2
 2
 munnich_19_ASD_discovery_cases
 Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
 502
 Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
 < 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
 69.92% Male
 N/A
 0
 1
 1
 qiao_09_ASD_discovery_cases
 Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)
 100
 ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards
 Range, 2-40 yrs.
 76% Male
 10000000
 0
 2
 2
 veltman_05_ASD_discovery_cases
 Female with diagnosis of PDD-NOS, borderline mental retardation, mild hypotonia, and joint laxity. Proband was originally identified in Bolton et al. 2004 15q11-q13 CNV report (proband was identified as case 12 in this report).
 1
 PDD-NOS. Diagnosis based on ADOS, ADI, and ASQ criteria.
 5 yrs. 5 mos.
 Female
 NA
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cai_08_ASD_discovery_controls
 Controls
 248
 Controls
 
 70.2% Male
 5700000
 0
 0
 0
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 5008627
 NA
 NA
 NA
 guilmatre_09_ASD_discovery_controls
 Controls
 236
 Controls
 39.5
 43.8% Male
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 bolton_04_ASD_discovery_cases
  England
 qPCR
 
 
 
 FISH
 bolton_04_combined_discovery_cases
  England
 qPCR
 
 
 
 FISH
 bolton_04_non-ASD_discovery_cases
  England
 qPCR
 
 
 
 FISH
 bremer_09_ASD_discovery_cases
  Swedish & Danish
 MLPA
  Bio-Rad Tetrad cycler & Applied Biosystems ABI3100 analyzer
 
 Genemapper v3.7
 aCGH, microsatellite analysis
 cai_08_ASD_discovery_cases
  205 Caucasian, 6 African-American, 24 Hispanic or Latino, 5 Asian, 11 mixed ethnicity, 28 unknown
 MLPA
  ABI 3130 genetic analyzer (Applied Biosystem)
 
 GeneMarker
 Direct DNA sequencing qPCR, FISH
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 guilmatre_09_ASD_discovery_cases
  France (231), Italy (29)
 QMPSF
  ABI Prism 3100 sequencer (Applied Biosystems)
 
 GeneScan 3.7
 QMPSF, aCGH, FISH
 koochek_06_ASD_discovery_cases
  Caucasian (1 case born in Germany)
 aCGH
  Spectral Genomics 1-Mb whole genome array
 
 
 FISH
 munnich_19_ASD_discovery_cases
  France
 aCGH, karyotyping
  Agilent 60K
 
 
 FISH
 qiao_09_ASD_discovery_cases
  NA
 aCGH
  BACs aCGH
 
 
 FISH; qPCR
 veltman_05_ASD_discovery_cases
  NA
 PCR, microsatellite analysis
 
 
 
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  cai_08_ASD_discovery_controls
  Caucasian
  qPCR
  ABI Prism 7900 HT (Applied Biosystem)
 
  Sequence Detection
 
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  guilmatre_09_ASD_discovery_controls
  Northwestern France
  QMPSF
  ABI Prism 3100 sequencer (Applied Biosystems)
 
  GeneScan 3.7
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  bolton_04_ASD_discovery_cases-case12
 NA
 
 ASD
 PDD-NOS, borderline mental retardation, mild hypotonia, joint laxity
 IQ > 80
 
 
  N/A
 Unknown
 Duplication
 Yes
  bremer_09_ASD_discovery_cases-case1
 NA
 NA
 ASD
 NA
 NA
 21281850 (approximate start)
 26681850
  5400000
 NCBI36
 Duplication
 Yes
  bremer_09_ASD_discovery_cases-case2
 NA
 NA
 ASD
 NA
 NA
 21311013 (approximate start)
 27911013
  6600000
 NCBI36
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU010603
 12.8
 M
 Autism
 Verbal language 16, Social 22, Repetitive behavior 9, Onset 3, Raven 104, midface hypoplasia, ligamentous laxity
 NA
 
 
  5700000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU010604
 10.7
 M
 Autism
 Verbal language 15, Social 15, Repetitive behavior 5, Onset 2, Raven 70, dolichocephaly, dysmorphism, ligamentous laxity
 NA
 
 
  5700000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU023303
 9.4
 F
 Broad spectrum
 Verbal language 8, Social 10, Repetitive behavior 2, Onset 2, Raven NA
 NA
 
 
  5700000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU023304
 7
 M
 Autism
 Verbal language 18, Social 24, Repetitive behavior 7, Onset 5, Raven NA
 NA
 
 
  5700000
 Unknown
 Duplication
 Yes
  christian_08_ASD_discovery_cases-AU006504
 NA
 M
 ASD
 NA
 NA
 22136511
 28150865
  6014355
 GRCh38
 Duplication
 Yes
  christian_08_ASD_discovery_cases-AU010603
 NA
 M
 ASD
 NA
 NA
 23319714
 28150865
  4831152
 GRCh38
 Duplication
 Yes
  christian_08_ASD_discovery_cases-AU023304
 NA
 M
 ASD
 NA
 NA
 23319714
 28150865
  4831152
 GRCh38
 Duplication
 Yes
  griswold_12_ASD_discovery_cases-case18054
 NA
 NA
 ASD/autism
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  griswold_12_ASD_discovery_cases-case7791
 NA
 NA
 ASD/autism
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  guilmatre_09_ASD_discovery_cases-case60478
 15
 M
 ASD
 Epilepsy
 IQ<40
 
 
  4000000
 Unknown
 Duplication
 Yes
  koochek_06_ASD_discovery_cases-subjectII:3
 38 yrs.
 F
 ASD
 Diagnosed at age 28 years with ASD (according to DSM-IV criteria). Birth/neonatal history: born after normal full-term pregnancy, low muscle tone, noted to be less responsive than other babies. Developmental milestones: gradually apparent developmental delays. Behavioral/psychiatric evaluation: history of psychiatric problems; described as "disturbed and living in a fantasy world" upon starting elementary school; ADHD (started on Ritalin at age 11 with some improvement in attention and hyperactivity); problematic behaviors including swearing, screaming, stealing, lying and outward physical and verbal abuse and aggression towards others developed after age 18 years; finger-flicking, consistent gaze avoidance. Epilepsy/seizures: diagnosed with partial simple seizures following development of balckouts at 25 years (resolved with Tegretol therapy); progressed to generalized seizure disorder at 38 years. EEG: diffuse increase in baseline activity but no fical disturbance at 8 months; no significant abnormality at 11 years. Language and communication evaluation: slurred speech and inability or read or write at 10 years; staccato-like, hoarse voice with articulation problems and frequent vocal tics. Musculoskeletal evaluation (38 yrs): normal. Two eye operations for strabismus at 11 yrs. Dysmorphic features: posterior occipital flattening, coarsened facial features, down-slanting palpebral fissures, broad and high nasal root, widened nasal bridge, prominent nasal tip, maxillary hypoplasia, retrognathia, pointed chin, crowded and protuberant teeth, D2/D3 syndactyly. Growth parameters: height, 5th %ile; weight, 50th-75th %ile; head circumference, 25th-50th %ile. Family history: niece (subject III:1) diagnosed with autism with comorbid intellectual disability; sister (subject II:2) reported to have learning problems as a child but no symptoms of autism; maternal aunt (subject I:3) who died in her 40s with learning disabilities, psychiatric illness, and symptoms of autism. Other genetic characteristics: cryptic maternally-transmitted translocation t(14:15)(q11.2:q13.3).
 Intellectual disability, clinically diagnosed at 5 years of age.
 20536416 (approx.)
 30830821 (approx.)
  10000000
 NCBI35
 Duplication
 Yes
  koochek_06_ASD_discovery_cases-subjectIII:1
 8 yrs. 7 mos.
 F
 Autism
 Diagnosis of autism (ADOS module 3, administered at 8 yrs. 7 mos.). Birth/neonatal history: born at 42 weeks following uncomplicated pregnancy, required resuscitation, Apgar scores ranged from 4-6 (1st few minutes) and were 8 at 10 minutes. Developmental milestones: mild motor delays noted in infancy (cruising at 13-14 months, walking at 16 months with clumsiness and uneven arm swing); problematic fine motor development; mildly delayed expressive language development (single words at 2 years, 2-3 word combinations by 3 yrs.). Language and communication evaluation: combined receptive/expressive language disorder; speech abnormalities (whisperings, mumbling, stereotyped phrasing) and alterations in speech fluency. Motor skills and musculoskeletal evaluation: low average muscle tone with increased joint mobility confirmed at 4 yrs.; generalized ligamentous laxity noted at 8 yrs. 7 mos. Behavioral/psychiatric evaluation: poor social reciprocity, lack of interest in elicting information, poor eye contact, difficulties with empathy, lack of insight, social awkardness, limited social overtures; anxiety symptoms. EEG: normal. Brian MRI: normal. Dysmorphic features: high forehead with deep-set eyes, down-slanting palpebral fissures, right esotropia, flat occiput, facial asymmetry, broad nasal root, high nasal bridge, high-arched palate, maxillary hypoplasia, retrognathia. Growth parameters: height, 75th %ile; weight, 75th %ile; head circumference, 75th %ile. Family history: mother (subject II:2) reported to have mild learning problems as a child but no symptoms of autism; maternal aunt (subject II:3) with ASD with comorbid intellectual disability (ID), ADHD, oppositional disorder, conduct disorder, and epilepsy: maternal grand-aunt (subject I:3) who died in her 40s with learning disabilities, psychiatric illness, and symptoms of autism. Other genetic characteristics: cryptic maternally-transmitted translocation t(14:15)(q11.2:q13.3).
 Formal cognitive testing performed at 5 yrs. 1 mo). Wechsler Preschool and Primary Scales of Intelligence-Revised (WWPSI-R) overall score in mild intellectual disability (ID) range: verbal score, 73 (borderline); performance score, 65 (mild ID). Vineland Adaptive Behaviour Scale: overall functioning in mild ID range in terms of communication, daily living skills and motor skills; low-average performance in socialization.
 20536416 (approx.)
 30830821 (approx.)
  10000000
 NCBI35
 Duplication
 Yes
  munnich_19_ASD_discovery_cases-case29
 N/A
 M
 ASD
 Case diagnosed with ASD based on DSM criteria. CNV detected by karyotype and FISH analysis (probe cos368 H, location 15q11.2)
 
 N/A
 N/A
  N/A
 GRCh37
 Duplication
 Yes
  qiao_09_ASD_discovery_cases-case5
 Range, 36-40
 F
 ASD
 Phenotype Score: 4. Epilepsy. Growth parameters: normal. Dysmorphic features: >2 craniofacial dysmorphisms. Family history: multiplex extended (MPX-E; sharing an ASD with another family member via 2nd degree co-relationship).
 Mild intellectual disability (IQ between 50 & 70)
 20536416
 30830821
  10000000
 Unknown
 Duplication
 Yes
  qiao_09_ASD_discovery_cases-case6
 Range, 6-10
 F
 Autism
 Phenotype Score: 4. Growth parameters: normal. Dysmorphic features: >2 craniofacial dysmorphisms. Seizures: none. Family history: multiplex extended (MPX-E; sharing an ASD with another family member via 2nd degree co-relationship).
 Moderate intellectual disability (IQ between 35 & 50)
 20536416
 30830821
  10000000
 Unknown
 Duplication
 Yes
  veltman_05_ASD_discovery_cases-proband
 5 yrs. 5 mos.
 F
 PDD-NOS
 ADOS-G (module 2) diagnosis of autism spectrum disorder/ASD (communication score of 4, social score of 4, social & communication score of 8, imagination score of 0, stereotpyed behavior score of 1). ADI-R diagnosis of autism (social domain score of 17, communication domain score of 9, stereotyped behavior score of 12, development score of 5). Autism Screening Questionnaire (ASQ) diagnosis of autism (score of 28; cut-off for autism is 22). Vineland Adaptive Behavior Scales (VABS) composite: low. Social behavior: definite social inappropriateness; no interest in other until recently. Developmental milestones: delayed speech and language development (single words at 36 months, poor articulation); poor motor skills (clumsy & uncoordinated); delayed toilet training. Wide-based and stiff-legged gait. Mild hypotonia. Joint laxity. Dysmorphic features: slightly down-slanting palpebral fissures. Family history: sister with 15q11-q13 duplication does not have a diagnosis of ASD (ADOS-G module 3: normal/not ASD; ADI-R: unclear/did not meet full autism criteria; ASQ: ASD), but speech/language difficulties & some autistic behaviors were reported early in her development; sister with duplication was diagnosed with encopresis & oppositional defiant disorder and was also determined to have low-average IQ, delayed toilet training, clumsy motor development, mild hypotonia & joint laxity; father with 15q11-q13 reported to have delayed motor development and diagnosis of separation anxiety; mother with history of affective disorder, OCD, anorexia nervosa, depression; history of manic-depression in maternal grandparent; maternal aunt with history of learning difficulties; psychiatric illness attributed to depression or dementia in paternal grandparent.
 Borderline mental retardation (MR); Mullen's Early Learning Composite Score of 72. About to attend mainstram primary school with speech and language unit.
 NA
 NA
  NA
 Unknown
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 bolton_04_ASD_discovery_cases-case12
 FISH
 
 Paternal
 Simplex
 Not segregated
 
 
 bremer_09_ASD_discovery_cases-case1
 aCGH, microsatellite analysis
 
 Maternal
 Unknown
 Unknown
 MKRN3,MAGEL2,NDN,C15orf2,SNRPN,SNURF,UBE3A,ATP10A,GABRB3,GABRA5,GABRG3,OCA2,HERC2
 
 bremer_09_ASD_discovery_cases-case2
 aCGH, microsatellite analysis
 
 Maternal
 Unknown
 Unknown
 MKRN3,MAGEL2,NDN,C15orf2,SNRPN,SNURF,UBE3A,ATP10A,GABRB3,GABRA5,GABRG3,OCA2,HERC2,APBA2,FAM189A1,NDNL2,TJP1
 
 cai_08_ASD_discovery_cases-AU010603
 FISH
 
 Maternal
 Multiplex
 Segregated
 
 
 cai_08_ASD_discovery_cases-AU010604
 FISH
 
 Maternal
 Multiplex
 Segregated
 
 
 cai_08_ASD_discovery_cases-AU023303
 FISH
 
 Unknown
 Multiplex
 Not segregated
 
 
 cai_08_ASD_discovery_cases-AU023304
 FISH
 
 Unknown
 Multiplex
 Not segregated
 
 
 christian_08_ASD_discovery_cases-AU006504
 FISH, microsatellite, qPCR
 
 inherited
 Multiplex
 NA
 RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 christian_08_ASD_discovery_cases-AU010603
 FISH, microsatellite
 
 de novo
 Multiplex
 NA
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 christian_08_ASD_discovery_cases-AU023304
 FISH, microsatellite
 
 de novo
 Multiplex
 NA
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 griswold_12_ASD_discovery_cases-case18054
 qPCR
 
 De novo
 Simplex
 Segregated
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 griswold_12_ASD_discovery_cases-case7791
 qPCR
 
 Maternal
 Multiplex
 Not segregated
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 guilmatre_09_ASD_discovery_cases-case60478
 QMPSF, aCGH, or FISH
 
 De novo
 NA
 NA
 GABRA5, GABRB3, GABRG3, 17 other genes
 
 koochek_06_ASD_discovery_cases-subjectII:3
 FISH
 
 Unknown (Complex-result of unbalanced maternally-transmitted translocation)
 Simplex
 Segregated
 Approx. gene content: CYFIP1,NIPA2,NIPA1,MKRN3,MAGEL2,NDN,C15orf2,SNRPN,SNURF,UBE3A,ATP10A,GABRB3,GABRA5,GABRG3,OCA2,HERC2,APBA2,FAM189A1,NDNL2,TJP1,CHRFAM7A,ARHGAP11B,FAN1,MTMR10,TRPM1,LOC283710,KLF13,OTUD7A,CHRNA7,ARHGAP11A,SCG5,GREM1
 
 koochek_06_ASD_discovery_cases-subjectIII:1
 FISH
 
 Unknown (Complex-result of unbalanced maternally-transmitted translocation)
 Simplex
 Segregated
 Approx. gene content: CYFIP1,NIPA2,NIPA1,MKRN3,MAGEL2,NDN,C15orf2,SNRPN,SNURF,UBE3A,ATP10A,GABRB3,GABRA5,GABRG3,OCA2,HERC2,APBA2,FAM189A1,NDNL2,TJP1,CHRFAM7A,ARHGAP11B,FAN1,MTMR10,TRPM1,LOC283710,KLF13,OTUD7A,CHRNA7,ARHGAP11A,SCG5,GREM1
 
 munnich_19_ASD_discovery_cases-case29
 FISH
 
 De novo
 
 
 CNV gene content N/A
 
 qiao_09_ASD_discovery_cases-case5
 FISH; qPCR
 
 De novo
 Simplex
 
 CYFIP1,NIPA2,NIPA1,MKRN3,MAGEL2,NDN,C15orf2,SNRPN,SNURF,UBE3A,ATP10A,GABRB3,GABRA5,GABRG3,OCA2,HERC2,APBA2,FAM189A1,NDNL2,TJP1,CHRFAM7A,ARHGAP11B,FAN1,MTMR10,TRPM1,LOC283710,KLF13,OTUD7A,CHRNA7,ARHGAP11A,SCG5,GREM1
 
 qiao_09_ASD_discovery_cases-case6
 FISH; qPCR
 
 De novo
 Simplex
 
 CYFIP1,NIPA2,NIPA1,MKRN3,MAGEL2,NDN,C15orf2,SNRPN,SNURF,UBE3A,ATP10A,GABRB3,GABRA5,GABRG3,OCA2,HERC2,APBA2,FAM189A1,NDNL2,TJP1,CHRFAM7A,ARHGAP11B,FAN1,MTMR10,TRPM1,LOC283710,KLF13,OTUD7A,CHRNA7,ARHGAP11A,SCG5,GREM1
 
 veltman_05_ASD_discovery_cases-proband
 FISH
 
 Paternal
 Simplex for ASD; multiplex for psychiatric disorder.
 Not segregated for ASD; segregated for psychiatric disorder
 
 

Controls

No Control Data Available

h15q11-q13->m7qB5-qC

# of Model: 7
# of References: 7

Mouse Chromosome Information

This mouse model features a duplication in the qB5-qC loci of chromosome 7, proximal to Herc2 and distal to Mrkn3. It is syntenic to common breakpoints of duplications in human chromosome 15q11-q13.

Model Summary

This is a mouse model of 15q11-q13 loci duplication commonly observed in autistic populations. Mice with this duplication display autism-associated traits such as decreased sociability, altered vocalizations, and increased anxiety when the duplication is located on the paternal, but not the maternal, chromosome.

External Links

UCSC Symbol         NCBI Symbol          NCBI Symbol

References

Report Type
Title
Author, Year
Primary
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism.
Additional
Decreased exploratory activity in a mouse model of 15q duplication syndrome; implications for disturbance of serotonin signaling.
Additional
Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models.
Additional
Enhanced synapse remodelling as a common phenotype in mouse models of autism.
Additional
Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism.
Additional
Cerebellar associative sensory learning defects in five mouse autism models.
Additional
Serotonin rebalances cortical tuning and behavior linked to autism symptoms in 15q11-13 CNV mice.

M_DP(7)_1_HT_P

Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Chromosomal engineering used to construct an interstitial duplication of mouse chromosome 7
Synteny: Common breakpoints in human chromosome 15q11-q13

M_DP(7)_1_HT_P_GEPH-GFP

Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: The progenitor cells for layer 2/3 neurons in the somatosensory cortex and anterior frontal cortex of Dp(7)_1_HT_p mice (paternally inherited duplication) were transfected using in utero electroporation. E15.5 timed pregnant mice were deeply anaesthetized, their uterine horns were exposed and approximately 1ul of DNA mixture, containing DsRed2 plasmid (1ug/ul) and Gephyrin-GFP plasmid (1-2ug/ul), was pressure injected into the lateral ventricle of each embryo through a micropipette. Electric pulses were passed through the head of each embryo using two tweezer type electrodes for electroporation.
Synteny:

M_DP(7)_1_HT_P_PSD95-GFP

Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: The progenitor cells for layer 2/3 neurons in the somatosensory cortex and anterior frontal cortex of Dp(7)_1_HT_p mice (paternally inherited duplication) were transfected using in utero electroporation. E15.5 timed pregnant mice were deeply anaesthetized, their uterine horns were exposed and approximately 1ul of DNA mixture, containing DsRed2 plasmid (1ug/ul) and PSD-95-GFP plasmid (1-2ug/ul), was pressure injected into the lateral ventricle of each embryo through a micropipette. Electric pulses were passed through the head of each embryo using two tweezer type electrodes for electroporation.
Synteny:

M_DP(7)_2_HT_M

Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Chromosomal engineering used to construct an interstitial duplication of mouse chromosome 7
Synteny: Common breakpoints in human chromosome 15q11-q13

M_DP(7)_2_HT_M_FLUOXETINE-1

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Dp(7)_2_HT_m infant mice were treated with 0.1 mg/ml of the selective serotonin reuptake inhibitor (SSRI) fluoxetine (FLX) through their mothers via milk to increase extracellular 5-HT levels. 0.2% saccharine was used in FLX drinking water to promote drinking as mothers disfavored the FLX water. FLX treatment was initiated at P3 and terminated at P21.
Synteny: Common breakpoints in human chromosome 15q11-q13

M_DP(7)_2_HT_M_FLUOXETINE-2

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Dp(7)_2_HT_m mice were intraperitonealy injected with 0.5 mg/kg FLX in PBS daily from P1 to P6.
Synteny: Common breakpoints in human chromosome 15q11-q13

M_DP(7)_2_HT_M_FLUOXETINE-3

Model Type: RESCUE-Pharmaceutical
Model Genotype: Heterozygous
Construct Definition: Dp(7)_2_HT_m mice were intraperitonealy injected with 2.5 mg/kg FLX in PBS daily from P1 to P6.
Synteny: Common breakpoints in human chromosome 15q11-q13

M_DP(7)_1_HT_P

Category Entity Quantity Experimental Paradigm Age at Testing
Motor phenotype General locomotor activity 5 Decreased
Description:  Decreased spontaenous locomotor activity
Exp Paradigm:  Open Field Test
Open field test  
Motor phenotype Gait 3 Increased
Description:  Dp(7) mice show increased stride length and stance width compared to wild type littermate controls. They also show concomitantly reduced stride frequency.
Footprint analysis 4-20 weeks
Neurophysiology Neurotransmitter release: serotonin 5 Decreased
Description:  Decreased levels of 5-HT across all brain regions
Exp Paradigm:  HPLC analysis of brain lysates
High-performance liquid chromatography (hplc) P7-P21
Neurophysiology Anatomical projections and connectivity: purkinje cell-climbing fiber connections 3 Increased
Description:  A significantly higher number of Purkinje cells, examined from young Dp(7) mice, receive inputs from more than one (2-3) climbing fiber, unlike littermate controls.
Whole-cell patch clamp P10-P12
Neurophysiology Neurotransmitter release: serotonin 2 Decreased
Description:  Decreased 5HT levels in frontal cortex, hippocampus, midbrain, and striatum
Exp Paradigm:  High-Performance Liquid Chromatography with Electrochemical Detection
High-performance liquid chromatography (hplc) 12-15 weeks
Neurophysiology Anatomical projections and connectivity: purkinje cell-climbing fiber connections 3 Increased
Description:  A significantly higher number of Purkinje cells, examined from adult Dp(7) mice as well, receive inputs from more than one (2-3) climbing fiber, unlike littermate controls (most of them receive input from 1 climbing fiber).
Whole-cell patch clamp 4-20 weeks
Neurophysiology Synaptic plasticity: cerebellar ltd 3 Decreased
Description:  Normal protocol for cerebellar LTD generation does not induce LTD in Dp(7) mice, unlike in littermate controls. It should be noted that if LTP is induced prior to LTD, to relieve saturation of maximally depressed synapses, normal LTD can be induced in the cerebellar Purkinje cells of Dp(7) mice
Whole-cell patch clamp 4-20 weeks
Neurophysiology Neurotransmitter release: catecholamines 2 Increased
Description:  Increased epinephrine levels in cerebellum and cortex
Exp Paradigm:  High-Performance Liquid Chromatography with Electrochemical Detection
High-performance liquid chromatography (hplc) 12-15 weeks
Neurophysiology Neurotransmitter release: serotonin 5 Decreased
Description:  Decreased levels of 5-HT and 5-HIAA in several brain regions
Exp Paradigm:  HPLC analysis of brain lysates
High-performance liquid chromatography (hplc)  
Neurophysiology Neurotransmitter release: catecholamines 2 Increased
Description:  Increased dopamine levels in frontal cortex
Exp Paradigm:  High-Performance Liquid Chromatography with Electrochemical Detection
High-performance liquid chromatography (hplc) 12-15 weeks
Social behavior Social interaction 1 Decreased
Description:  Decreased sociability demonstrated by decreased interaction with novel mouse
Exp Paradigm:  Three-chamber social interaction test
Three-chamber social approach test  
Communications Audible vocalization 1 Decreased
Description:  Decreased number of audible and ultrasonic vocalizations in response to intruder
Exp Paradigm:  Resident-intruder paradigm followed by vocalization measurements
Resident-intruder test  
Communications Ultrasonic vocalization: isolation induced 1 Increased
Description:  Increased number of ultrasonic vocalizations
Exp Paradigm:  USV measurements
Monitoring ultrasonic vocalizations P5-P14
Communications Ultrasonic vocalization: isolation induced 1 Abnormal
Description:  Abnormal frequency distribution of ultrasonic vocalizations
Exp Paradigm:  Frequency analysis of USV
Monitoring ultrasonic vocalizations P7, P14
Developmental profile Size/growth 5 Increased
Description:  Increased body weight
Exp Paradigm:  General Observations
General observations 9-13 weeks
Developmental profile Size/growth 1 Increased
Description:  Increased body weight
Exp Paradigm:  General Observations
General observations 15-20 weeks
Emotion Anxiety 5 Increased
Description:  Increased anxiety-like behavior
Exp Paradigm:  Open Field Test; Novelty supressed feeding test-Open field test
Open field test 9-13 weeks
Emotion Anxiety 5 Increased
Description:  Increased anxiety-like behavior
Exp Paradigm:  Open Field Test; Novelty supressed feeding test-Novelty-suppressed feeding paradigm
Novelty-induced hypophagia 9-13 weeks
Emotion Exploratory activity 5 Decreased
Description:  Decreased exploratory activity
Exp Paradigm:  Y-maze task; marble burying test-Y-maze test
Y-maze test 9-13 weeks
Emotion Anxiety 1 Increased
Description:  Increased anxiety demonstrated by decreased time spent in open arms
Exp Paradigm:  Elevated plus maze test
Elevated plus maze test  
Emotion Exploratory activity 5 Decreased
Description:  Decreased exploratory activity
Exp Paradigm:  Y-maze task; marble burying test-Marble-burying test
Marble-burying test 9-13 weeks
Learning & memory Cognitive flexibility 1 Decreased
Description:  Decreased behavior flexibility
Exp Paradigm:  Morris water maze test; Barnes maze test-Morris water maze test
Morris water maze test  
Learning & memory Eye blink conditioning 4 Decreased
Description:  There is a significant decrease in learning the conditioned response in patdp/+ or Dp(7) pat mice, compared to littermate controls
Exp Paradigm:  Males only
Eyeblink conditioning 2-4 months
Learning & memory Cognitive flexibility 1 Decreased
Description:  Decreased behavior flexibility
Exp Paradigm:  Morris water maze test; Barnes maze test-Barnes maze test
Barnes maze test  
Learning & memory Eye blink conditioning 3 Decreased
Description:  Dp(7) mice have decreased number of conditioned responses to eyeblink conditioning compared to littermate controls in the first phase of training and trials, showing reduced cerebellar dependent motor learning, attributed to reduced cerebellar plasticity and de novo acquisition. There was no impairment in the presentation of the response (eye closure), or in duration (peak time, amplitude etc) of CR , when generated.
Eyeblink conditioning 4-20 weeks
Learning & memory Cued or contextual fear conditioning 1 Increased
Description:  Increased cued conditioning anomalies demonstrated by increased freezing score in altered contextual environment
Exp Paradigm:  Cued and contextual conditioning task using 60 dB white noise tone and mild foot shock
Fear conditioning test  
Molecular profile Metabolite levels: neurometabolites 2 Increased
Description:  Increased HIAA, a major metabolite of 5HT levels in frontal cortex and striatum
Exp Paradigm:  High-Performance Liquid Chromatography with Electrochemical Detection
High-performance liquid chromatography (hplc) 12-15 weeks
Molecular profile Rna modification 1 Increased
Description:  Increased RNA editing ratio in sites A, B, and D of 5-HT2cR RNA
   
Molecular profile Metabolite levels: neurometabolites 2 Increased
Description:  Increased DOPAC levels in cerebellum, midbrain and frontal cortex
Exp Paradigm:  High-Performance Liquid Chromatography with Electrochemical Detection
High-performance liquid chromatography (hplc) 12-15 weeks
Molecular profile Protein expression level evidence 3 Increased
Description:  Dp(7) mice have increased expression of Ube3a in the cerebellum
Western blot 4-20 weeks
Molecular profile Gene expression 1 Increased
Description:  Increased expression of MBII52 in brain
Exp Paradigm:  RNA blot hybridization in brain
Northern blot  
Molecular profile Metabolite levels: neurometabolites 5 Increased
Description:  Increased levels of DA and metabolies: HVA, DOPAC
Exp Paradigm:  HPLC analysis of brain lysates
High-performance liquid chromatography (hplc) P7-P21
Molecular profile Gene expression 1 Increased
Description:  Increased expression levels of Ndn, Snrpn, GABAa, Herc2
Exp Paradigm:  Quantitative RT-PCR in brains
Quantitative pcr (qrt-pcr)  
Circadian sleep/wake cycle Locomotor activity in diurnal cycle 5 No change Home cage behavior 9-13 weeks
Developmental profile Mortality/lethality 1 No change General observations  
Learning & memory Cued or contextual fear conditioning 5 No change Fear conditioning test 9-13 weeks
Learning & memory Eye blink conditioning 4 No change Eyeblink conditioning 2-4 months
Learning & memory Eye blink conditioning: extinction and reactivation 3 No change Eyeblink conditioning 4-20 weeks
Learning & memory Eye blink conditioning: extinction and reactivation 4 No change Eyeblink conditioning 2-4 months
Learning & memory Spatial learning 1 No change Barnes maze test  
Learning & memory Spatial learning 1 No change Morris water maze test  
Learning & memory Spatial working memory 5 No change Y-maze test  
Molecular profile Dna methylation 1 No change    
Molecular profile Gene expression 1 No change Quantitative pcr (qrt-pcr)  
Molecular profile Protein expression level evidence 2 No change Western blot 12-15 weeks
Motor phenotype Grip strength 5 No change Grip strength test 9-13 weeks
Motor phenotype Motor coordination and balance 5 No change Accelerating rotarod test 9-13 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Brain morphology 1 No change Histology P0, P7,P14
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar foliation 3 No change Immunohistochemistry 4-20 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology 3 No change Immunohistochemistry 4-20 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology: granule cell layer thickness 4 No change Histology 2-4 months
Neuroanatomy / Ultrastructure / Cytoarchitecture Cerebellar morphology: molecular layer thickness 4 No change Histology 2-4 months
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity 3 No change Sholl analysis 4-20 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity 4 No change Sholl analysis 2-4 months
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density 4 No change Sholl analysis 2-4 months
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: purkinje cells 3 No change Immunohistochemistry 4-20 weeks
Neurophysiology Neurotransmitter release 5 No change High-performance liquid chromatography (hplc) P7-P21
Neurophysiology Neurotransmitter release 5 No change High-performance liquid chromatography (hplc)  
Neurophysiology Synaptic plasticity: cerebellar ltp 3 No change Whole-cell patch clamp 4-20 weeks
Neurophysiology Synaptic transmission 3 No change Whole-cell patch clamp 4-20 weeks
Physiological parameters Bioactive compound levels: tetrahydrobiopterin 2 No change High-performance liquid chromatography with electrochemical detection (hplc-ec) 12-15 weeks
Sensory Pain or nociception 5 No change Hot plate test 9-13 weeks
 
Not Reported: Circadian sleep/wake cycle,   Communications,   Developmental profile,   Emotion,   Immune response,   Learning & memory,   Maternal behavior,   Molecular profile,   Motor phenotype,   Neuroanatomy / ultrastructure / cytoarchitecture,   Neurophysiology,   Physiological parameters,   Repetitive behavior,   Seizure,   Sensory,   Social behavior,  
References: 1:  Nakatani J , et al. 2009 , 2:  Farook MF , et al. 2012 , 3:  Piochon C , et al. 2014 , 4:  Kloth AD , et al. 2015 , 5:  Tamada K , et al. 2010

M_DP(7)_1_HT_P_GEPH-GFP

Category Entity Quantity Experimental Paradigm Age at Testing
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine turnover 1 Increased
Description:  Dp(7) mice show increased turnover of Gephyrin-negative puncta associated spines in the SSC compared to wild type mice
Exp Paradigm:  Turnover of Gephyrin-GFP negative puncta-associated spines was measured
Two-photon microscopy P21-P23
Neuroanatomy / Ultrastructure / Cytoarchitecture Structural dendritic plasticity 1 Decreased
Description:  Dp(7) mice show reduced remodeling of gephyrin negative puncta in the SSC after sensory stimulation (chessboard whisker trimming) compared to wild type mice. Wild type mice show increased gain of gephyrin negatice puncta which receive intracortical input. Gephyrin positive puncta remain unaffected in both wild type and Dp(7) mice
Exp Paradigm:  Turnover of Gephyrin-GFP negative puncta-associated spines was measured
Two-photon microscopy P21-P23
Neurophysiology Neuronal activation following behavioral stimulation: c-fos levels 1 Decreased
Description:  Dp(7) mice have reduced density of C-Fos positive cells in the barrel cortex region corresponding to row C of whiskers, in layers 2/3 compared to wild type mice
Exp Paradigm:  All whiskers except row C were removed and mice exposed to enriched environment for 1 h before sacrifice
Immunohistochemistry P21-P23
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density 1 No change Two-photon microscopy P21-P23
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine turnover 1 No change   P21-P23
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: excitatory 1 No change Two-photon microscopy P21-P23
Neurophysiology Neuronal activation following behavioral stimulation: c-fos levels 1 No change Immunohistochemistry P21-P23
 
Not Reported: Circadian sleep/wake cycle,   Communications,   Developmental profile,   Emotion,   Immune response,   Learning & memory,   Maternal behavior,   Molecular profile,   Motor phenotype,   Physiological parameters,   Repetitive behavior,   Seizure,   Sensory,   Social behavior,  
References: 1:  Isshiki M , et al. 2014

M_DP(7)_1_HT_P_PSD95-GFP

Category Entity Quantity Experimental Paradigm Age at Testing
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine turnover 1 Increased
Description:  Dp(7) mice show increased turnover of PSD95-negative puncta associated spines in the AFC compared to wild type mice (this is slightly different from the turnover of PSD95 negative spines in the SSC)
Exp Paradigm:  Turnover of PSD-95 -GFP negative puncta of spines was measured
Two-photon microscopy P14-P15
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine turnover 1 Increased
Description:  Dp(7) mice show increased turnover of PSD95-positive puncta associated spines in the SSC compared to wild type mice
Exp Paradigm:  Turnover of PSD95 -GFP positive puncta, present on spines, was measured
Two-photon microscopy P21-P23
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine turnover 1 Increased
Description:  Dp(7) mice show increased turnover of PSD95-positive puncta associated spines in the AFC compared to wild type mice
Exp Paradigm:  Turnover of PSD-95 -GFP positive puncta of spines was measured
Two-photon microscopy P21-23, P14-P15
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density 1 No change Two-photon microscopy P21-P23, P14-P15
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine density 1 No change Two-photon microscopy P21-P23
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: spine turnover 1 No change Two-photon microscopy P21-P23
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: excitatory 1 No change Two-photon microscopy P21-P23, P14-P15
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: excitatory 1 No change Two-photon microscopy P21-P23
 
Not Reported: Circadian sleep/wake cycle,   Communications,   Developmental profile,   Emotion,   Immune response,   Learning & memory,   Maternal behavior,   Molecular profile,   Motor phenotype,   Neurophysiology,   Physiological parameters,   Repetitive behavior,   Seizure,   Sensory,   Social behavior,  
References: 1:  Isshiki M , et al. 2014

M_DP(7)_2_HT_M

Category Entity Quantity Experimental Paradigm Age at Testing
Neuroanatomy / Ultrastructure / Cytoarchitecture Synaptic morphology 3 Abnormal
Description:  Mutants show a decrease in symmetric but no change in asymmetric synapses compared to controls.
Electron microscopy 2-3 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic length 3 Decreased
Description:  Mutants show decrease in maximum apical dendritic length compared to controls, in layer 2-3 pyramidal neurons of the somatosensory cortex.
Immunohistochemistry 2-3 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: inhibitory 3 Decreased
Description:  Mutants show reduction in the number of vesicular GABA transporter (VGAT) positive synapses in layers 2 and 3 but not in layers 4 and 6 of the somatosensory cortex compared to controls. Mutants show a reduction in symmetric synapses (which indicate inhibitory synapses) compared to controls.
Immunohistochemistry 2-3 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: serotonin 3 Decreased
Description:  Mutants show decrease in midbrain serotonin levels compared to controls.
High-performance liquid chromatography (hplc) 9-10 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: gaba-r: gabaa 3 Increased
Description:  Mutants show increased expression of GABA-A receptor subunits Gabra5, Gabrb3, and Gabrg3, compared to controls.
Quantitative pcr (qrt-pcr) 3 weeks
Neurophysiology Membrane potential 3 Increased
Description:  Mutant 5HT neurons in the DRN were hyperpolarized compared to controls.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Synaptic transmission: excitatory 3 Decreased
Description:  Mutants show reduced excitatory synaptic transmission onto 5-HT neurons compared to controls.
Whole-cell patch clamp 2-3 weeks
Neurophysiology Decay kinetics of miniature post synaptic currents 3 Decreased
Description:  Mutants show slower decay time of mIPSCs compared to controls in pyramidal neurons of layer 2-3 of the somatosensory cortex, compared to controls.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Neurotransmitter release: catecholamines 2 Increased
Description:  Increased dopamine levels in cerebellum
Exp Paradigm:  High-Performance Liquid Chromatography with Electrochemical Detection
High-performance liquid chromatography (hplc) 12-15 weeks
Neurophysiology Ion influx and permeability: calcium 3 Abnormal
Description:  Mutants show no change in the size of the peak response area of the principal barrel to a single whisker stimulation compared to controls. Mutants show an increase in the responsive surrounding area compared to controls.
Exp Paradigm:  Transgenic mouse expressing the GFP-Calmodulin fusion protein, GCaMP7 were used for calcium imaging.
Calcium imaging 2-3 weeks
Neurophysiology Spontaneous post synaptic event amplitude: excitatory currents 3 Decreased
Description:  Mutants show decreased amplitude of sEPSCs in the DRN neurons of the lateral wing and the ventromedial nuclei, compared to controls.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Decay kinetics of evoked post synaptic currents 3 Decreased
Description:  Mutants show smaller peak amplitude and slower decay slope percentage in the principal area of the somatosensory cortex compared to controls, indicating decreased responsiveness to the principal whisker.
Exp Paradigm:  Transgenic mouse expressing the GFP-Calmodulin fusion protein, GCaMP7 were used for calcium imaging.
Calcium imaging 2-3 weeks
Neurophysiology Neuronal activation 3 Decreased
Description:  Mutants show reduced regional activity in the DRN, hippocampus and anterior cingulate cortex, compared to controls.
Exp Paradigm:  DRN activity was measured by PET imaging of regional cerebral glucose levels using a 2-[^18F] fluoro- 2-deoxy-D-glucose ([^18F]FDG) probe.
Positron emission tomography (pet) imaging 5-8 weeks
Neurophysiology Intrinsic membrane properties 3 Abnormal
Description:  Mutants show higher input resistance compared to controls but no change in cellular capacitance and resting membrane potential compared to controls.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Neurotransmitter release: catecholamines 2 Increased
Description:  Increased norepinephrine levels in striatum, hippocampus and cerebellum
Exp Paradigm:  High-Performance Liquid Chromatography with Electrochemical Detection
High-performance liquid chromatography (hplc) 12-15 weeks
Neurophysiology Action potential firing 3 Increased
Description:  Mutants show increased excitability of pyramidal neurons in layers 2-3 of the somatosensory cortex, compared to controls, measured by an increase of area under the curve computed from action potential frequency plots.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Miniature post synaptic current frequency: inhibitory 3 Decreased
Description:  Mutants show decrease in the frequency of mIPSCs compared to controls in pyramidal neurons of layer 2-3 of the somatosensory cortex.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Hyperpolarization activated cation currents 3 Decreased
Description:  Mutants show smaller hyperpolarization activated cation currents compared to controls.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Neurotransmitter release: catecholamines 2 Increased
Description:  increased epinephrine levels in striatum and frontal cortex, not midbrain
Exp Paradigm:  High-Performance Liquid Chromatography with Electrochemical Detection
High-performance liquid chromatography (hplc) 12-15 weeks
Sensory Sensory-evoked response: excitation: tactile stimulus 3 Abnormal
Description:  Mutants show no change in firing properties in spiking neurons compared to controls. Mutants show increase in amplitudes of surrounding whisker responses compared to controls. Mutants show no change in the amplitudes of principal whisker responses compared to controls. Mutants show lower tuning of whisker selectivity compared to controls.
Exp Paradigm:  In vivo patch-clamp recordings of layer 2/3 of the cerebral cortex was performed to measure the responsiveness of a single neuron to whisker stimuli.
Whole-cell patch clamp 2-3 weeks
Social behavior Social approach 3 Decreased
Description:  Mutants spent less time with a caged novel mouse than around an empty cage, compared to controls.
Three-chamber social approach test 9-12 weeks
Communications Ultrasonic vocalization: isolation induced 3 Increased
Description:  Mutants show increase in the number of USV calls compared to controls.
Monitoring ultrasonic vocalizations P7
Emotion Exploratory activity 3 Decreased
Description:  Mutants show reduced exploratory activity compared to controls.
Open field test 9-12 weeks
Emotion Anxiety 3 Increased
Description:  Mutants spent less time in the center of the open field compared to controls.
Open field test 9-12 weeks
Molecular profile Metabolite level quantification 3 Decreased
Description:  Mutants show decrease in midbrain serotonin metabolite 5-HIAA levels compared to controls.
High-performance liquid chromatography (hplc) 9-10 weeks
Molecular profile Gene expression 1 Increased
Description:  Increased mRNA expression levels of Ndn, Ube3a, GABAa, Herc2
Exp Paradigm:  Quantitative RT-PCR in brains
Quantitative pcr (qrt-pcr)  
Molecular profile Protein expression level evidence 2 Increased
Description:  increased Ube3a protein expression in cerebellum and hippocampus
Exp Paradigm:  Western Blot Analysis
Western blot 12-15 weeks
Molecular profile Metabolite levels: neurometabolites 2 Increased
Description:  Increased DOPAC levels in striatum
Exp Paradigm:  High-Performance Liquid Chromatography with Electrochemical Detection
High-performance liquid chromatography (hplc) 12-15 weeks
Communications Ultrasonic vocalization: isolation induced 1 No change Monitoring ultrasonic vocalizations P5 - P14
Developmental profile Mortality/lethality 1 No change General observations  
Emotion Anxiety 1 No change Elevated plus maze test  
Learning & memory Cognitive flexibility 3 No change   9-12 weeks
Learning & memory Cognitive flexibility 1 No change Barnes maze test  
Learning & memory Cued or contextual fear conditioning 1 No change Fear conditioning test  
Learning & memory Spatial reference memory 3 No change Morris water maze test 9-12 weeks
Learning & memory Spatial working memory 3 No change Morris water maze test 9-12 weeks
Molecular profile Dna methylation 1 No change    
Molecular profile Gene expression 3 No change Quantitative pcr (qrt-pcr) 2 weeks
Molecular profile Gene expression 1 No change Quantitative pcr (qrt-pcr)  
Molecular profile Gene expression 1 No change Northern blot  
Molecular profile Rna modification 1 No change    
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity 3 No change Immunohistochemistry 2-3 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Dendritic architecture: dendritic tree complexity 3 No change Immunohistochemistry 2-3 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuronal number: inhibitory neurons 3 No change Immunohistochemistry 2-3 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: gaba-r: gabaa 3 No change Quantitative pcr (qrt-pcr) 3 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density 3 No change Immunohistochemistry 2-3 weeks
Neuroanatomy / Ultrastructure / Cytoarchitecture Synapse density: excitatory 3 No change Immunohistochemistry 2-3 weeks
Neurophysiology Action potential properties: amplitude, rate of depolarization and repolarization 3 No change Whole-cell patch clamp 5-8 weeks
Neurophysiology Decay kinetics of miniature post synaptic currents 3 No change Whole-cell patch clamp 5-8 weeks
Neurophysiology Miniature post synaptic current amplitude: excitatory 3 No change Whole-cell patch clamp 5-8 weeks
Neurophysiology Miniature post synaptic current amplitude: inhibitory 3 No change Whole-cell patch clamp 5-8 weeks
Neurophysiology Miniature post synaptic current frequency: excitatory 3 No change Whole-cell patch clamp 5-8 weeks
Neurophysiology Neuronal activation 3 No change Positron emission tomography (pet) imaging 5-8 weeks
Neurophysiology Neurotransmitter release: catecholamines 2 No change High-performance liquid chromatography (hplc) 12-15 weeks
Neurophysiology Neurotransmitter release: serotonin 2 No change High-performance liquid chromatography (hplc) 12-15 weeks
Neurophysiology Presynaptic function: paired-pulse facilitation 3 No change Whole-cell patch clamp 5-8 weeks
Neurophysiology Spontaneous post synaptic event amplitude: inhibitory currents 3 No change Whole-cell patch clamp 4-8 weeks
Neurophysiology Spontaneous post synaptic event frequency: excitatory currents 3 No change Whole-cell patch clamp 5-8 weeks
Neurophysiology Spontaneous post synaptic event frequency: inhibitory currents 3 No change Whole-cell patch clamp 4-8 weeks
Physiological parameters Bioactive compound levels: tetrahydrobiopterin 2 No change High-performance liquid chromatography with electrochemical detection (hplc-ec) 12-15 weeks
 
Not Reported: Circadian sleep/wake cycle,   Communications,   Developmental profile,   Emotion,   Immune response,   Learning & memory,   Maternal behavior,   Motor phenotype,   Neuroanatomy / ultrastructure / cytoarchitecture,   Neurophysiology,   Physiological parameters,   Repetitive behavior,   Seizure,   Sensory,   Social behavior,  
References: 1:  Nakatani J , et al. 2009 , 2:  Farook MF , et al. 2012 , 3:  Nakai N , et al. 2017

M_DP(7)_2_HT_M_FLUOXETINE-1

Category Entity Quantity Experimental Paradigm Age at Testing
Neuroanatomy / Ultrastructure / Cytoarchitecture Neuroreceptor levels: serotonin 1 Ameliorated
Description:  FLX treatment increased the midbrain serotonin levels in mutants but not to control levels.
High-performance liquid chromatography (hplc) 9-10 weeks
Neurophysiology Miniature post synaptic current amplitude: inhibitory 1 No adverse effect
Description:  FLX treatment did not change the amplitude of mIPSCs in pyramidal neurons of layer 2-3 of the somatosensory cortex in mutants.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Action potential firing 1 Restored
Description:  FLX treatment suppressed the increased intrinsic excitability of pyramidal neurons in the somatosensory cortex.
Whole-cell patch clamp 4-8 weeks
Neurophysiology Spontaneous post synaptic event amplitude: inhibitory currents 1 No adverse effect
Description:  FLX treatment did not change the amplitude of sIPSCs in mutants.
Whole-cell patch clamp 4-8 weeks
Neurophysiology Membrane potential 1 Refractory
Description:  FLX treatment did not restore the hyperpolarized membrane potential in mutants.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Spontaneous post synaptic event amplitude: excitatory currents 1 Restored
Description:  FLX treatment restored the decreased sEPSC amplitudes to control levels at the ventromedial DRN and the lateral wing DRN in mutants.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Decay kinetics of miniature post synaptic currents 1 Refractory
Description:  FLX treatment did not restore the longer decay time of mIPSCs in mutant pyramidal neurons of layer 2-3 of the somatosensory cortex.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Spontaneous post synaptic event frequency: inhibitory currents 1 Side effect
Description:  FLX treatment enhanced spontaneous IPSC frequency in the mutants.
Exp Paradigm:  sIPSCs were recorded from layer2/3 pyramidal neurons in the somatosensory cortex.
Whole-cell patch clamp 4-8 weeks
Neurophysiology Miniature post synaptic current frequency: inhibitory 1 Ameliorated
Description:  FLX treatment increased the decrease in the frequency of mIPSCs in mutant pyramidal neurons of layer 2-3 of the somatosensory cortex.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Decay kinetics of miniature post synaptic currents 1 No adverse effect
Description:  FLX treatment did not change the 10-90% rise times of mIPSCs in pyramidal neurons of layer 2-3 of the somatosensory cortex in mutants.
Whole-cell patch clamp 5-8 weeks
Neurophysiology Spontaneous post synaptic event frequency: excitatory currents 1 No adverse effect
Description:  FLX treatment had no adverse effect on the frequency of sEPSCs at the ventromedial DRN and the lateral wing DRN in mutants.
Whole-cell patch clamp 5-8 weeks
Social behavior Social approach 1 Ameliorated
Description:  FLX treatment of mutants increased the amount of time the mice spent around a novel caged conspecific compared to untreated mutants.
Three-chamber social approach test 9-12 weeks
Emotion Anxiety 1 Refractory
Description:  FLX treatment does not increase the time spent in the center in mutants compared to controls.
Open field test 9-12 weeks
Emotion Exploratory activity 1 Refractory
Description:  FLX treatment did not increase the reduced exploratory activity in mutants.
Open field test 9-12 weeks
Learning & memory Spatial working memory 1 No adverse effect
Description:  FLX treatment shows no change in time spent in the target quadrant during the acquisition phase in mutants.
Morris water maze test 9-12 weeks
Learning & memory Spatial reference memory 1 No adverse effect
Description:  FLX treatment shows no change in time spent in the target quadrant during the probe trial phase in mutants.
Morris water maze test 9-12 weeks
Learning & memory Cognitive flexibility 1 No adverse effect
Description:  FLX treatment shows no change in time spent in the target quadrant during the reverse learning phase in mutants.
Morris water maze test 9-12 weeks
Molecular profile Metabolite level quantification 1 Ameliorated
Description:  FLX treatment elevated the decreased 5-HT metabolite 5-HIAA levels in midbrain in mutants but not to control levels.
High-performance liquid chromatography (hplc) 9-10 weeks
 
Not Reported: Circadian sleep/wake cycle,   Communications,   Developmental profile,   Immune response,   Maternal behavior,   Motor phenotype,   Physiological parameters,   Repetitive behavior,   Seizure,   Sensory,  
References: 1:  Nakai N , et al. 2017

M_DP(7)_2_HT_M_FLUOXETINE-2

Category Entity Quantity Experimental Paradigm Age at Testing
Communications Ultrasonic vocalization: isolation induced 1 Ameliorated
Description:  FLX treatment reduced the number of USV calls by mutant pups but not to control levels.
Monitoring ultrasonic vocalizations P7
 
Not Reported: Circadian sleep/wake cycle,   Developmental profile,   Emotion,   Immune response,   Learning & memory,   Maternal behavior,   Molecular profile,   Motor phenotype,   Neuroanatomy / ultrastructure / cytoarchitecture,   Neurophysiology,   Physiological parameters,   Repetitive behavior,   Seizure,   Sensory,   Social behavior,  
References: 1:  Nakai N , et al. 2017

M_DP(7)_2_HT_M_FLUOXETINE-3

Category Entity Quantity Experimental Paradigm Age at Testing
Communications Ultrasonic vocalization: isolation induced 1 Restored
Description:  FLX treatment reduced the number of USV calls by mutant pups to controls levels.
Monitoring ultrasonic vocalizations P7
 
Not Reported: Circadian sleep/wake cycle,   Developmental profile,   Emotion,   Immune response,   Learning & memory,   Maternal behavior,   Molecular profile,   Motor phenotype,   Neuroanatomy / ultrastructure / cytoarchitecture,   Neurophysiology,   Physiological parameters,   Repetitive behavior,   Seizure,   Sensory,   Social behavior,  
References: 1:  Nakai N , et al. 2017

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