Arx^tm1.1Jno
Targeted Allele Detail

Summary

• Symbol: Arx^tm1.1Jno
• Name: aristaless related homeobox; targeted mutation 1.1, Jeffrey L Noebels
• MGI ID: MGI:4353222
• Synonyms: Arx^(GCG)10+7
• Gene: Arx Location: ChrX:92330113-92341963 bp, + strand Genetic Position: ChrX, 41.05 cM
• Alliance: Arx^tm1.1Jno page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:151082
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: The first polyalanine tract found in exon 2 was expanded by the insertion 8 GCT alanine tracts bringing the total number of alanine codons in tract 1 to 23. In addition loxP sites were inserted around exon 2 and an frt flanked neo cassette was inserted in intron 2 via homologous recombination. Flp mediated recombination then removed the neo cassette. (J:151082)

Disease models

Expression

In Structures Affected by this Mutation:

4 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:151082 Price MG, et al., A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J Neurosci. 2009 Jul 8;29(27):8752-63
• All: 4 reference(s)