Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Mouse cornea trasnciptomics: Pax6-sey mutation (Aniridia model) and Duloxetine administration - Affymetrix GeneChip Mouse Gene 2.0 ST Array (MoGene-2_0-st) in -

ABSTRACT: Cornea transcriptomic analysis in a mouse model of slowly progressing aniridia-associated keratopathy (AAK) the heterozygous 129S1.Cg-Pax6Sey/Mmmh strain on the 129S1/SvImJ background (MMRRC stock #050624-MU)(4, 5). The Pax6 mutation of this model is a spontaneous point mutation in exon 8 of the Pax6 gene (G to T substitution), leading to a premature stop codon. Mice were treated with 10 μM duloxetine eyedrops (samples named Het-Dul) or vehicle (Samples named Het-Veh) twice daily, for 90 days. The experimental design also included non-mutant, WT mouse eyes that were either administered with the same regimen of duloxetine (samples named Wt-Dul) or untouched (Samples names Wt-Ctrl).

ORGANISM(S): Mus musculus

SUBMITTER: Petros Moustardas 

PROVIDER: E-MTAB-16492 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

A human-like model of aniridia-associated keratopathy for mechanistic and therapeutic studies.

Javidjam Dina D   Moustardas Petros P   Abbasi Mojdeh M   Dashti Ava A   Rautavaara Yedizza Y   Lagali Neil N  

JCI insight 20241203 2

Aniridia is a rare congenital condition of abnormal eye development arising principally from heterozygous mutation of the PAX6 gene. Among the multiple complications arising in the eye, aniridia-associated keratopathy (AAK) is a severe vision-impairing condition of the cornea associated with a progressive limbal stem cell deficiency that lacks suitable treatment options. Current mouse models of aniridia do not accurately represent the onset and progression dynamics of human AAK, hindering therap  ...[more]

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