- decreased hematocrit / MGI
- lung inflammation / MGI
- abnormal respiratory system physiology / MGI
- respiratory system inflammation / MGI
- abnormal macrophage physiology / MGI
- growth/size/body region phenotype / MGI
- behavior/neurological phenotype / MGI
- abnormal cytokine level / MGI
- increased red blood cell distribution width / MGI
B6.129P2(SJL)-Del(10Prmt2-Col6a1)1Yah/Orl
| Status | Available to order |
| EMMA ID | EM:01808 |
| Citation information | RRID:IMSR_EM:01808 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.129P2(SJL)-Del(10Prmt2-Col6a1)1Yah/Orl |
| Alternative name | Del(Hrmt1l1-Col6a1)Ms1Yah |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Del(10Prmt2-Col6a1)1Yah |
| Gene/Transgene symbol | Del(10Prmt2-Col6a1)1Yah |
Information from provider
| Provider | Yann HERAULT |
| Provider affiliation | TAAM-CDTA UPS44, CNRS-TAAM – Typing and Archiving of Animal Models |
| Genetic information | Deletion of the region between the Hrmt1l1 (Prmt2) and Col6a1 genes engineered using Mutagenic Insertion and Chromosome Engineering Resource (MICER) in ES (HM1) cells. |
| Phenotypic information | Homozygotes: early embryonic lethal. Heterozygotes: no major defects. |
| Breeding history | Deletion generated in 129P2 HM1 ES cells. Cells injected in C57BL/6 blastocysts. Backcrossed to C57BL/6 (N7). |
| References |
|
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
Disease and phenotype information
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- decreased hematocrit / MGI
- lung inflammation / MGI
- abnormal respiratory system physiology / MGI
- respiratory system inflammation / MGI
- abnormal macrophage physiology / MGI
- growth/size/body region phenotype / MGI
- behavior/neurological phenotype / MGI
- abnormal cytokine level / MGI
- increased red blood cell distribution width / MGI
Literature references
- Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses.;Besson Vanessa, Brault Véronique, Duchon Arnaud, Togbe Dieudonné, Bizot Jean-Charles, Quesniaux Valérie F J, Ryffel Bernard, Hérault Yann, ;2007;Human molecular genetics;16;2040-52; 17591625
- Rodent models in Down syndrome research: impact and future opportunities.;Herault Yann, Delabar Jean M, Fisher Elizabeth M C, Tybulewicz Victor L J, Yu Eugene, Brault Veronique, ;2017;Disease models & mechanisms;10;1165-1186; 28993310
- A Researcher's guide to rodent models of Down syndrome: Recent insights and translational perspectives.;Raza Mir A, Folz Andrew, Victorino Daniella B, Xing Zhuo, Chen Xu-Qiao, Zuo Xinxin, Borden Leah K, Potier Marie-Claude, Mobley William, Dierssen Mara, Hiratsuka Masaharu, Kazuki Yasuhiro, Welshhans Kristy, Maugham-Macan Michelle, Tramutola Antonella, Okun Eitan, Reeves Roger, Roper Randall J, Yu Y Eugene, Hérault Yann, Tybulewicz Victor L J, Fisher Elizabeth M C, Sathyanesan Aaron, ;2026;STAR protocols;7;104717; 42501327
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