Journal: Human Molecular Genetics

Article Title: Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder

doi: 10.1093/hmg/ddz305

Figure Lengend Snippet: The female proband carries compound heterozygous nonsense mutations in TMPRSS9. Sanger sequencing of the compound heterozygous nonsense mutations in the female proband and her heterozygous parents (carriers).

Article Snippet: The design and generation of a Tmprss9 constitutive knockout mouse model and a Tmprss9 conditional knockout mouse model were performed by TaconicArtemis GmbH (Cologne, Germany).

Techniques: Sequencing

Journal: Human Molecular Genetics

Article Title: Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder

doi: 10.1093/hmg/ddz305

Figure Lengend Snippet: Tmprss9 expression in mouse tissues and specific brain regions. (A) Semiquantitative PCR of Tmprss9 mRNA in multiple tissues in wild-type mice. (B) Semiquantitative PCR of Tmprss9 mRNA in multiple brain regions in wild-type mice. (C) Quantitative RT-PCR of Tmprss9 mRNA expression in various brain regions. Data are normalized to Rps16 mRNA levels. Data are shown as mean ± standard error of mean (N = 2).

Article Snippet: The design and generation of a Tmprss9 constitutive knockout mouse model and a Tmprss9 conditional knockout mouse model were performed by TaconicArtemis GmbH (Cologne, Germany).

Techniques: Expressing, Quantitative RT-PCR

Journal: Human Molecular Genetics

Article Title: Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder

doi: 10.1093/hmg/ddz305

Figure Lengend Snippet: Tmprss9−/− mice display deficits in both social interest and social recognition. (A–D) Tmprss9−/− mice in three-chamber interaction test. (A) 13-week-old males, N = 15–17; (B) 13-week-old females, N = 14–16; (C) 1-year-old males, N = 15–17 and (D) 1-year-old females, N = 14–20. (E–H) Tmprss9−/− mice in partition test. (E) 15-week-old males, N = 15–20; (F) 15-week-old females, N = 16–20; (G) 1-year-old males, N = 15–17 and (H) 1-year-old females, N = 14–20. Data are shown as mean ± standard error of mean. ns, not significant. *P < 0.05, **P < 0.01, ***P < 0.001, ****P < 0.0001.

Article Snippet: The design and generation of a Tmprss9 constitutive knockout mouse model and a Tmprss9 conditional knockout mouse model were performed by TaconicArtemis GmbH (Cologne, Germany).

Techniques:

Journal: Human Molecular Genetics

Article Title: Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder

doi: 10.1093/hmg/ddz305

Figure Lengend Snippet: Aged Tmprss9−/− female mice show learning and memory deficits in novel object recognition. (A) 13-week-old males, N = 16–17; (B) 13-week-old females, N = 14–15; (C) 1-year-old males, N = 15–17 and (D) 1-year-old females, N = 14–20. Data are shown as mean ± standard error of mean. *P < 0.05.

Article Snippet: The design and generation of a Tmprss9 constitutive knockout mouse model and a Tmprss9 conditional knockout mouse model were performed by TaconicArtemis GmbH (Cologne, Germany).

Techniques:

Journal: Neurochemical Research

Article Title: Dynactin Deficiency in the CNS of Humans with Sporadic ALS and Mice with Genetically Determined Motor Neuron Degeneration

doi: 10.1007/s11064-013-1160-7

Figure Lengend Snippet: Expression of dynactin Dctn1 or Dctn3 mRNA in the CNS of transgenic mice. The expression was determined by RT-PCR and expressed as the ratio of the optical density (OD) value of Dctn1 or Dctn3 to the optical density of S12 protein RNA, as indicated in the Material and Method section. Filled diamond dashed lines wild-type controls (+/+); filled triangles Cra1/+ mice; filled circles SOD1/+ mice; filled squares Cra1/SOD1 hybrides

Article Snippet: The hSOD1G93A males (B6 background; Jackson Laboratories, Barr Harbor, ME, USA) were crossed with Cra1/+ heterozygote females (C3He background; Ingenium Pharmaceuticals AG, Martinsried, Germany) [ ].

Techniques: Expressing, Transgenic Assay, Reverse Transcription Polymerase Chain Reaction

Journal: Neurochemical Research

Article Title: Dynactin Deficiency in the CNS of Humans with Sporadic ALS and Mice with Genetically Determined Motor Neuron Degeneration

doi: 10.1007/s11064-013-1160-7

Figure Lengend Snippet: Percentage of dynactin subunits expression in the CNS of transgenic mice

Article Snippet: The hSOD1G93A males (B6 background; Jackson Laboratories, Barr Harbor, ME, USA) were crossed with Cra1/+ heterozygote females (C3He background; Ingenium Pharmaceuticals AG, Martinsried, Germany) [ ].

Techniques: Expressing, Transgenic Assay