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Arxtm3Kki
Targeted Allele Detail
Summary
Symbol: Arxtm3Kki
Name: aristaless related homeobox; targeted mutation 3, Kunio Kitamura
MGI ID: MGI:4359176
Synonyms: ArxP355L, ArxPL
Gene: Arx  Location: ChrX:92330113-92341963 bp, + strand  Genetic Position: ChrX, 41.05 cM
Alliance: Arxtm3Kki page
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:    Intragenic deletion, Nucleotide substitutions
 
Mutation detailsExon 2 was replaced with one in which nucleotide substitutions result in the amino acid substitution of proline with leucine at position 355 in the encoded protein (p.P355L), mimicking a mutation found in some X-linked lissencephaly patients. A neomycin resistance gene cassette was inserted into intron 2. (J:152416)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Arx Mutation:  20 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:  3 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
03/19/2024
MGI 6.23
The Jackson Laboratory