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Arxtm4Kki
Targeted Allele Detail
Nomenclature
Symbol: Arxtm4Kki
Name: aristaless related homeobox; targeted mutation 4, Kunio Kitamura
MGI ID: MGI:4359177
Synonyms: Arx330ins(GCG7), ArxE, ArxExpanded, Arx(GCG)7, Arxtm(GCG)Kki
Gene: Arx  Location: ChrX:93286507-93298357 bp, + strand  Genetic Position: ChrX, 41.05 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:152416
Parent Cell Line:  CCE/EK.CCE (ES Cell)
Strain of Origin:  129S/SvEv-Gpi1c
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide repeat expansion
 
Mutation detailsExon 2 was replaced with one in which coding nucleotide 330 (C), the third base of alanine codon 110 in the middle of the first poly-alanine stretch, was replaced with a G and had seven GCG alanine codons inserted after it (c.330C>GGCGGCGGCGGCGGCGGCGGCG). The resulting protein mutation (p.(A110_A111delinsAAAAAAAAA)) mimics a muation found in some X-linked mental retardation patients. A neomycin resistance gene cassette was inserted in to intron 1. (J:152416)
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: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 5 strains available      Cell Lines: 0 lines available
Carrying any Arx Mutation:  19 strains or lines available
References
Original:  J:152416 Kitamura K, et al., Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Hum Mol Genet. 2009 Oct 1;18(19):3708-24
All:  9 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
11/05/2019
MGI 6.14
The Jackson Laboratory