Arx^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Arx^tm1.1Ics
• Name: aristaless related homeobox; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:6195852
• Synonyms: Arx^dup24, Arx^KI.ICS
• Gene: Arx Location: ChrX:92330113-92341963 bp, + strand Genetic Position: ChrX, 41.05 cM
• Alliance: Arx^tm1.1Ics page

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 details: Exon 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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: 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: 2 reference(s)