Strain Information | |
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Image | |
BRC No. | RBRC03654 |
Type | Targeted Mutation![]() |
Species | Mus musculus |
Strain name | B6;129-Arx<tm(GCG)Kki>/7-1Rbrc |
Former Common name | Arx (GCG)7-1 KI (B6) |
H-2 Haplotype | |
ES Cell line | CCE/EK.CCE [129S/SvEv-Gpi1<c>] |
Background strain | |
Appearance | |
Strain development | Developed by Kunio Kitamura, Mitsubishi Kagaku Institute of Life Sciences. CCE/EK.CCE ES cells were used to generate the mutant mice. |
Strain description | Arx GCG 7 repeats knock-in mice. 7 repeats of the GCG triple were inserted at the codon 330 of Arx gene. C57BL/6 mixed background (RBRC03654 and RBRC03656), 129 background (RBRC03655), C3H mixed background (RBRC03657), ICR mixed background (RBRC03665). |
Colony maintenance | Heterozygote x Wild-type [C57BL/6JJcl] |
References | Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki-Migishima R, Umeki Y, Hohjoh H, Yanagawa Y, Shinba T, Itoh M, Nakamura K, Goto Y Hum. Mol. Genet., 18, 3708-3724 (2009). 19605412 |
Health Report | |
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Examination Date / Room / Rack |
Gene | |||||||
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Gene Symbol | Gene Name | Chr. | Allele Symbol | Allele Name | Common Names | Promoter | Diseases Related to This Gene |
Arx MGI:1097716 | aristaless related homeobox | X | Arx<tm4Kki> MGI:4359177 | targeted mutation 4, Kunio Kitamura | |||
neo | neomycin resistance gene (E. coli) | X | herpes simplex virus thymidine kinase promoter (HSV tk promoter) | ||||
SV40 polyA signal | X |
Phenotype | |
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Annotation by Mammalian phenotyhpe ontology | more 19 phenotypes |
Detailed phenotype data |
Ordering Information | |
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Donor DNA | herpes simplex virus thymidine kinase promoter (HSV tk promoter), E. coli Neomycin resistance gene, SV40 polyA signal, mouse ARX genomic DNA |
Research application | Mouse Models for Human Disease Neurobiology Research |
Specific Term and Conditions | The BIOLOGICAL RESOURCE shall be used only for academic research purposes by a non-profit organization. The RECIPIENT of a non-profit organization must prior contact RIKEN BRC and negotiate with Mitsubishi Chemical Corporation to use the BIOLOGICAL RESOURCE for purposes of other than academic research. In publishing the research results to be obtained by use of the BIOLOGICAL RESOURCE in relevant journals and meetings, the RECIPIENT must stipulate the source of the BIOLOGICAL RESOURCE and an acknowledgment to Mitsubishi Chemical Corporation. The RECIPIENT agrees that RIKEN BRC informs annually to Mitsubishi Chemical Corporation of RECIPIENT organization, RECIPIENT name, the specific research purpose and the date of distribution. |
Depositor | Kunio Kitamura (Mitsubishi Kasei Institute of Life Sciences) |
Strain Status | ![]() |
Strain Availability | Recovered litters from cryopreserved embryos (2 to 4 months) Cryopreserved embryos (within 1 month) |
Additional Info. | Necessary documents for ordering:
Genotyping protocol -PCR- |
BRC mice in Publications |
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Drongitis D, Caterino M, Verrillo L, Santonicola P, Costanzo M, Poeta L, Attianese B, Barra A, Terrone G, Lioi MB, Paladino S, Di Schiavi E, Costa V, Ruoppolo M, Miano MG. Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy. Hum Mol Genet 31(11) 1884-1908(2022) 35094084 |
Loring KE, Mattiske T, Lee K, Zysk A, Jackson MR, Noebels JL, Shoubridge C. Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX). Neurobiol Dis 153 105329(2021) 33711494 |
Lee K, Mattiske T, Kitamura K, Gecz J, Shoubridge C. Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation. Hum Mol Genet 23(4) 1084-94(2014) 24122442 |
Beguin S, Crépel V, Aniksztejn L, Becq H, Pelosi B, Pallesi-Pocachard E, Bouamrane L, Pasqualetti M, Kitamura K, Cardoso C, Represa A. An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development. Cereb Cortex 23(6) 1484-94(2013) 22628459 |
Xu S, Hayashi Y, Takagishi Y, Itoh M, Murata Y. Aristaless-related homeobox plays a key role in hyperplasia of the pancreas islet α-like cells in mice deficient in proglucagon-derived peptides. PLoS One 8(5) e64415(2013) 23671715 |