Otx2^tm12.1Asim
Targeted Allele Detail

Summary

• Symbol: Otx2^tm12.1Asim
• Name: orthodenticle homeobox 2; targeted mutation 12.1, Antonio Simeone
• MGI ID: MGI:5573195
• Synonyms: Otx2^AA, Otx2^tm1.1Jkm
• Gene: Otx2 Location: Chr14:48894238-48905101 bp, - strand Genetic Position: Chr14, 25.36 cM
• Alliance: Otx2^tm12.1Asim page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:207121
• Parent Cell Line: E14TG2a.4 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The second exon was replaced with one in which nucleotide substitutions result in the replacement of arginine and lysine at amino acid positions 36 and 37, respectively, by two alanines (RK to AA: R36A, K37A). This mutation in the RK doublet decreases its specific capture by the parvalbumin cells in the visual cortex. Cre-mediated recombination removed a floxed neomycin resistance cassette, leaving a single loxP site downstream of exon 2. (J:185952, J:207121)

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Otx2 Mutation: 50 strains or lines available

References

• Original: J:207121 Bernard C, et al., Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes. Hum Mol Genet. 2014 Apr 1;23(7):1742-53
• All: 3 reference(s)