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Arxtm1.1Ics
Targeted Allele Detail
Nomenclature
Symbol: Arxtm1.1Ics
Name: aristaless related homeobox; targeted mutation 1.1, Mouse Clinical Institute
MGI ID: MGI:6195852
Synonyms: Arxdup24, ArxKI.ICS
Gene: Arx  Location: ChrX:92330113-92341963 bp, + strand  Genetic Position: ChrX, 41.05 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:262482
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide repeat expansion
 
Mutation detailsExon 2 was replaced with one in which murine nucleotides 459-698 were replaced by the corresponding human sequence (amino acids 79-160) containing a 24 bp duplication in the polyalanine tract (c.428_451dup24) generating a partially humanized exon 2. A loxP-flanked neomycin resistance cassette follows the modified exon 2 and was removed via cre-mediated recombination. Western blot analysis confirmed reduced protein expression. (J:262482)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Arx Mutation:  20 strains or lines available
References
Original:  J:262482 Dubos A, et al., A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations. Hum Mol Genet. 2018 Jun 15;27(12):2138-2153
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory