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rdf:type |
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lifeskim:mentions |
umls-concept:C0000769,
umls-concept:C0021920,
umls-concept:C0022646,
umls-concept:C0022889,
umls-concept:C0026336,
umls-concept:C0265234,
umls-concept:C0441587,
umls-concept:C0600253,
umls-concept:C1314792,
umls-concept:C1332713,
umls-concept:C1414490,
umls-concept:C1415831,
umls-concept:C1522424,
umls-concept:C2239666
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pubmed:issue |
4
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pubmed:dateCreated |
1999-4-29
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pubmed:databankReference |
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pubmed:abstractText |
A spontaneous mutation causing deafness and circling behavior was discovered in a C3H/HeJ colony of mice at the Jackson Laboratory. Pathological analysis of mutant mice revealed gross morphological abnormalities of the inner ear, and also dysmorphic or missing kidneys. The deafness and abnormal behavior were shown to be inherited as an autosomal recessive trait and mapped to mouse chromosome 1 near the position of the Eya1 gene. The human homolog of this gene, EYA1, has been shown to underly branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder characterized by hearing loss with associated branchial and renal anomalies. Molecular analysis of the Eya1 gene in mutant mice revealed the insertion of an intracisternal A particle (IAP) element in intron 7. The presence of the IAP insertion was associated with reduced expression of the normal Eya1 message and formation of additional aberrant transcripts. The hypomorphic nature of the mutation may explain its recessive inheritance, if protein levels in homozygotes, but not heterozygotes, are below a critical threshold needed for normal developmental function. The new mouse mutation is designated Eya1(bor) to denote its similarity to human BOR syndrome, and will provide a valuable model for studying mutant gene expression and etiology.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0964-6906
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
645-53
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pubmed:dateRevised |
2011-8-19
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pubmed:meshHeading |
pubmed-meshheading:10072433-Animals,
pubmed-meshheading:10072433-Base Sequence,
pubmed-meshheading:10072433-Behavior, Animal,
pubmed-meshheading:10072433-Blotting, Northern,
pubmed-meshheading:10072433-Branchio-Oto-Renal Syndrome,
pubmed-meshheading:10072433-Chromosome Mapping,
pubmed-meshheading:10072433-Cochlea,
pubmed-meshheading:10072433-Crosses, Genetic,
pubmed-meshheading:10072433-DNA Mutational Analysis,
pubmed-meshheading:10072433-Deafness,
pubmed-meshheading:10072433-Disease Models, Animal,
pubmed-meshheading:10072433-Female,
pubmed-meshheading:10072433-Gene Expression Regulation,
pubmed-meshheading:10072433-Genes, Intracisternal A-Particle,
pubmed-meshheading:10072433-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:10072433-Introns,
pubmed-meshheading:10072433-Kidney,
pubmed-meshheading:10072433-Male,
pubmed-meshheading:10072433-Mice,
pubmed-meshheading:10072433-Mice, Inbred C3H,
pubmed-meshheading:10072433-Molecular Sequence Data,
pubmed-meshheading:10072433-Mutagenesis, Insertional,
pubmed-meshheading:10072433-Nuclear Proteins,
pubmed-meshheading:10072433-Protein Tyrosine Phosphatases,
pubmed-meshheading:10072433-RNA,
pubmed-meshheading:10072433-Tissue Distribution,
pubmed-meshheading:10072433-Trans-Activators
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pubmed:year |
1999
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pubmed:articleTitle |
Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome.
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pubmed:affiliation |
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA. krj@jax.org
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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