Arx^tm2Kki
Targeted Allele Detail

Summary

• Symbol: Arx^tm2Kki
• Name: aristaless related homeobox; targeted mutation 2, Kunio Kitamura
• MGI ID: MGI:4359175
• Synonyms: Arx^P355R, Arx^PR
• Gene: Arx Location: ChrX:92330113-92341963 bp, + strand Genetic Position: ChrX, 41.05 cM
• Alliance: Arx^tm2Kki 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-Gpi1^c

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 2 was replaced with one in which nucleotide substitutions result in the amino acid substitution of proline with arginine at position 355 in the encoded protein (p.P355R), mimicking a mutation found in some X-linked lissencephaly patients. A neomycin resistance gene cassette was inserted into intron 2. (J:152416)

Disease models

Expression

In Structures Affected by this Mutation:

5 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: 2 reference(s)