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- W2120293301 abstract "The eyeless inbred mouse strain ZRDCT has long served as a spontaneous model for human anophthalmia and the evolutionary reduction of eyes that has occurred in some naturally blind mammals. ZRDCT mice have orbits but lack eyes and optic tracts and have hypothalamic abnormalities. Segregation data suggest that a small number of interacting genes are responsible, including at least one major recessive locus, ey1. Although predicted since the 1940s, these loci were never identified. We mapped ey1 to chromosome 18 using an F2 genome scan and there found a Met10-->Leu mutation in Rx/rax, a homeobox gene that is expressed in the anterior headfold, developing retina, pineal, and hypothalamus and is translated via a leaky scanning mechanism. The mutation affects a conserved AUG codon that functions as an alternative translation initiation site and consequently reduces the abundance of Rx protein. In contrast to a targeted Rx null allele, which causes anophthalmia, central nervous system defects, and neonatal death, the hypomorphic M10L allele is fully viable." @default.
- W2120293301 created "2016-06-24" @default.
- W2120293301 creator A5012275431 @default.
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- W2120293301 creator A5025048495 @default.
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- W2120293301 creator A5072672581 @default.
- W2120293301 creator A5090177774 @default.
- W2120293301 date "2001-01-01" @default.
- W2120293301 modified "2023-09-23" @default.
- W2120293301 title "Theeyeless mouse mutation(ey1) removes an alternative start codon from theRx/rax homeobox gene" @default.
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- W2120293301 doi "https://doi.org/10.1002/gene.10003" @default.
- W2120293301 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11668677" @default.
- W2120293301 hasPublicationYear "2001" @default.
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