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| Nomenclature |
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Symbol:
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Arxtm1.1Jno
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Name:
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aristaless related homeobox;
targeted mutation 1.1, Jeffrey L Noebels
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MGI ID: |
MGI:4353222 |
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Synonyms: |
Arx(GCG)10+7 |
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Gene:
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Arx
Location:
ChrX:93286507-93298357 bp, + strand
Genetic Position: ChrX,
41.05 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:151082
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Arx Mutation:
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19 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
