Eya1^bor
Spontaneous Allele Detail

Summary

• Symbol: Eya1^bor
• Name: EYA transcriptional coactivator and phosphatase 1; branchio otorenal syndrome
• MGI ID: MGI:1857803
• Gene: Eya1 Location: Chr1:14239178-14380459 bp, - strand Genetic Position: Chr1, 4.31 cM
• Alliance: Eya1^bor page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Transposon insertion
• Mutation details: 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 mRNA and aberrant splicing. (J:54408)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	87 assay results
In Structures Affected by this Mutation:	13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Eya1 Mutation: 56 strains or lines available

References

• Original: J:54408 Johnson KR, et al., Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome. Hum Mol Genet. 1999 Apr;8(4):645-53
• All: 8 reference(s)